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Results for "MACF1"

Variant Events: 84

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
MACF1     2-1146-003chr1:
39779361-39779361		AGintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     C218203chr1:
39799017-39799017		ACintronicDe novo0.043-Fu2022 E
MACF1     14196_p1chr1:
39838232-39838232		AGexonicDe novononsynonymous SNVNM_012090c.A6991Gp.M2331V8.865-Fu2022 E
MACF1     2-0122-004chr1:
39637747-39637747		GTintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     AU3721301chr1:
39874223-39874223		GAintronicDe novo--Trost2022 G
Trost2022 G
Yuen2017 G
MACF1     1-0745-003chr1:
39715346-39715346		GAintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     1-0004-003chr1:
39677547-39677547		TCintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     11190.p1chr1:
39799059-39799059		AAGGintronicDe novo--Satterstrom2020 E
MACF1     1-0345-004chr1:
39837230-39837230		AGintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     AU4012302chr1:
39905777-39905778		TCTintronicDe novo--Yuen2017 G
MACF1     AU4315302chr1:
39787039-39787039		ACintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     PN400518chr1:
39812757-39812757		CTintronicUnknown47.0-Leblond2019 E
MACF1     1-0010-003chr1:
39720552-39720552		TAintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     1-0180-004chr1:
39742060-39742060		AAGintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     PN400249chr1:
39903464-39903464		GAexonicUnknownnonsynonymous SNVNM_012090c.G11827Ap.E3943K35.05.0E-4Leblond2019 E
MACF1     PN400100chr1:
39903464-39903464		GAexonicUnknownnonsynonymous SNVNM_012090c.G11827Ap.E3943K35.05.0E-4Leblond2019 E
MACF1     2-0225-004chr1:
39634473-39634473		GAintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     PN400127chr1:
39812757-39812757		CTintronicUnknown47.0-Leblond2019 E
MACF1     F5980-1chr1:
39826589-39826589		TCexonicDe novosynonymous SNVNM_012090c.T6183Cp.I2061I3.27-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MACF1     SP0107946chr1:
39889627-39889627		GGTintronicDe novo--Fu2022 E
MACF1     SP0134329chr1:
39846048-39846048		ACintronic--Zhou2022 GE
MACF1     SP0148140chr1:
39823030-39823030		GCintronicDe novo--Fu2022 E
Trost2022 G
MACF1     SP0236625chr1:
39895664-39895664		TGexonicnonsynonymous SNVNM_012090c.T10868Gp.V3623G18.98-Zhou2022 GE
MACF1     PN400441chr1:
39903464-39903464		GAexonicUnknownnonsynonymous SNVNM_012090c.G11827Ap.E3943K35.05.0E-4Leblond2019 E
MACF1     SP0242932chr1:
39854001-39854001		CTexonicnonsynonymous SNVNM_012090c.C9301Tp.R3101W10.483.296E-5Zhou2022 GE
MACF1     SP0033688 Complex Event; expand row to view variants  De novononsynonymous SNV, nonframeshift substitutionNM_012090
NM_012090		c.C11584A
c.11584_11585AT		p.Q3862K
N/A		33.0-Fu2022 E
Zhou2022 GE
MACF1     2-0299-005chr1:
39719293-39719293		CGintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     AU054303chr1:
39947216-39947216		AGintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     SP0098450chr1:
39845949-39845949		AGexonicDe novononsynonymous SNVNM_012090c.A7366Gp.K2456E20.81.656E-5Fu2022 E
Zhou2022 GE
MACF1     7-0008-003chr1:
39573743-39573743		GTintronicDe novo--Trost2022 G
MACF1     PN400283chr1:
39903464-39903464		GAexonicUnknownnonsynonymous SNVNM_012090c.G11827Ap.E3943K35.05.0E-4Leblond2019 E
MACF1     SP0365511chr1:
39916774-39916774		CTexonicnonsynonymous SNVNM_012090c.C14132Tp.A4711V37.0-Zhou2022 GE
MACF1     7-0095-003chr1:
39677304-39677306		TGACAGintronicDe novo--Trost2022 G
MACF1     1-0332-003chr1:
39677304-39677306		TGACAGintronicDe novo--Trost2022 G
MACF1     7-0095-003chr1:
39677309-39677309		TCintronicDe novo--Trost2022 G
MACF1     1-0057-003chr1:
39677309-39677309		TCintronicDe novo--Trost2022 G
MACF1     AU2283301chr1:
39612986-39612990		TTTCCTintronicDe novo--Trost2022 G
MACF1     AU2288301chr1:
39584317-39584317		TCintronicDe novo--Trost2022 G
MACF1     1-0057-003chr1:
39677304-39677306		TGACAGintronicDe novo--Trost2022 G
MACF1     1-0043-004chr1:
39677304-39677306		TGACAGintronicDe novo--Trost2022 G
MACF1     SP0171312chr1:
39768761-39768761		TCintronicDe novo--Trost2022 G
MACF1     AU4394302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
MACF1     REACH000194chr1:
39755414-39755414		CTintronicDe novo--Trost2022 G
MACF1     19-984080-19chr1:
39796883-39796883		AGintronicDe novo--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MACF1     1-1224-003chr1:
39787199-39787199		AGintronicDe novo--Trost2022 G
MACF1     MSSNG00216-003chr1:
39772386-39772386		TCintronicDe novo--Trost2022 G
MACF1     1-0380-003chr1:
39677508-39677509		AACCintronicDe novo--Trost2022 G
MACF1     Miyake2023:7919chr1:
39917969-39917970		GTGexonicDe novoframeshift deletionNM_012090c.14384delTp.V4795fs--Miyake2023 E
MACF1     1-0043-004chr1:
39677336-39677336		TCintronicDe novo--Trost2022 G
MACF1     PN400584chr1:
39903464-39903464		GAexonicUnknownnonsynonymous SNVNM_012090c.G11827Ap.E3943K35.05.0E-4Leblond2019 E
MACF1     5-5153-003chr1:
39755078-39755078		TCintronicDe novo--Trost2022 G
MACF1     PN400241chr1:
39812757-39812757		CTintronicUnknown47.0-Leblond2019 E
MACF1     1-0380-003chr1:
39677522-39677522		TCintronicDe novo--Trost2022 G
MACF1     1-1162-003chr1:
39874777-39874777		TAintronicDe novo--Trost2022 G
Trost2022 G
MACF1     AU3859301chr1:
39591733-39591733		CTintronicDe novo--Yuen2017 G
MACF1     PN400576chr1:
39903464-39903464		GAexonicInherited, Unknownnonsynonymous SNVNM_012090c.G11827Ap.E3943K35.05.0E-4Leblond2019 E
Leblond2019 E
MACF1     SP0042217chr1:
39789949-39789949		CTexonicMosaicstopgainNM_012090c.C4336Tp.Q1446X24.5-Feliciano2019 E
MACF1     5-0009-003chr1:
39872535-39872535		TCintronicDe novo--Trost2022 G
MACF1     AU3859301chr1:
39598224-39598224		GCintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     More2023:3chr1:
39853641-39853641		GTexonicInheritednonsynonymous SNVNM_012090c.G8941Tp.A2981S23.60.0062More2023 G
MACF1     MSSNG00096-003chr1:
39884159-39884159		CGintronicDe novo--Trost2022 G
MACF1     1-0196-005chr1:
39720024-39720024		CTexonicDe novosynonymous SNVNM_012090c.C427Tp.L143L--Trost2022 G
Yuen2017 G
Zhou2022 GE
MACF1     AU4159301chr1:
39858419-39858419		TAintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     5015chr1:
39799059-39799059		AAGGintronicDe novo--Trost2022 G
MACF1     216287chr1:
39787869-39787873		GGGTTGintronicDe novo--Trost2022 G
MACF1     SP0153456chr1:
39827376-39827376		GAintronicDe novo--Trost2022 G
MACF1     3-0305-000chr1:
39826865-39826865		ACintronicDe novo--Trost2022 G
MACF1     3-0461-000chr1:
39916100-39916100		TCintronicDe novo--Trost2022 G
MACF1     More2023:10chr1:
39763365-39763365		GTexonicInheritednonsynonymous SNVNM_012090c.G2444Tp.C815F32.00.0051More2023 G
MACF1     MSSNG00369-004chr1:
39912256-39912256		AGintronicDe novo--Trost2022 G
MACF1     2-1526-004chr1:
39945791-39945794		AAACGCCTCTGAAintronicDe novo--Trost2022 G
MACF1     7-0258-003chr1:
39926217-39926217		CGintronicDe novo--Trost2022 G
MACF1     2-1272-003chr1:
39904691-39904691		GTintronicDe novo--Yuen2016 G
MACF1     14196.p1chr1:
39838232-39838232		AGexonicDe novononsynonymous SNVNM_012090c.A6991Gp.M2331V8.865-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MACF1     13502.p1chr1:
39784265-39784265		CTexonicMosaicnonsynonymous SNVNM_012090c.C3938Tp.S1313L23.41.0E-4Krupp2017 E
MACF1     111304chr1:
39900258-39900258		CTexonicnonsynonymous SNVNM_012090c.C11552Tp.P3851L33.01.648E-5Woodbury-Smith2022 E
MACF1     12521.p1chr1:
39903616-39903616		GAexonicMosaicsynonymous SNVNM_012090c.G11979Ap.L3993L5.037-Krupp2017 E
MACF1     AU030703chr1:
39910108-39910108		AGintronicDe novo--Trost2022 G
Yuen2017 G
MACF1     1-0336-003chr1:
39713079-39713079		AGintronicDe novo--Yuen2017 G
MACF1     12011.p1chr1:
39601832-39601832		GAintronicDe novo--Turner2016 G
MACF1     SP0110353chr1:
39898756-39898756		AGexonicnonsynonymous SNVNM_012090c.A11308Gp.M3770V8.0339.96E-5Zhou2022 GE
MACF1     SP0058698chr1:
39801180-39801182		AAGAintronicDe novo--Trost2022 G
Zhou2022 GE
MACF1     A202403chr1:
39696859-39696859		CTexonicDe novononsynonymous SNVNM_012090c.C226Tp.R76W28.8-Fu2022 E
MACF1     JASD_Fam0138chr1:
39917969-39917970		GTGexonicDe novoframeshift deletionNM_012090c.14384delTp.V4795fs--Takata2018 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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