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Results for "ANKDD1A"

Variant Events: 12

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
ANKDD1A     ASC_CA_145_Achr15:
65239797-65239797
CGexonicDe novononsynonymous SNVNM_182703c.C1335Gp.I445M8.83-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ANKDD1A     1-0150-004chr15:
65233530-65233530
CTintronicDe novo--Trost2022 G
Yuen2017 G
ANKDD1A     AU4150301chr15:
65205334-65205334
CGintronicDe novo--Trost2022 G
Yuen2017 G
ANKDD1A     11124.p1chr15:
65239714-65239714
CGexonicDe novononsynonymous SNVNM_182703c.C1252Gp.L418V16.23-Ji2016 E
Krumm2015 E
ANKDD1A     1-0282-003chr15:
65245433-65245437
GCTTTGintronicDe novo--Trost2022 G
Yuen2017 G
ANKDD1A     SSC06115chr15:
65209717-65209717
CTintronicDe novo--Trost2022 G
ANKDD1A     SP0140760chr15:
65223708-65223708
GAexonicDe novosynonymous SNVNM_182703c.G693Ap.S231S-8.516E-6Trost2022 G
ANKDD1A     2-1292-004chr15:
65214987-65214987
CTintronicDe novo--Trost2022 G
Yuen2017 G
ANKDD1A     12664.p1chr15:
65209717-65209717
CTintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
ANKDD1A     AU4007301chr15:
65243938-65243960
CCTTCTTCTTCCTCTTCTTCTTCCCTTCTTCCTCTTCTTCTTCintronicDe novo--Yuen2017 G
ANKDD1A     iHART1048chr15:
65239683-65239685
AACAexonicPaternalframeshift deletionNM_182703c.1222_1223delp.T408fs--Ruzzo2019 G
ANKDD1A     mAGRE1048chr15:
65239683-65239685
AACAexonicPaternalframeshift deletionNM_182703c.1222_1223delp.T408fs--Cirnigliaro2023 G
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
Curation notesView
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