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Results for "DCDC1"

Variant Events: 54

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
DCDC1     SP0067264chr11:
30915869-30915870
CGCexonicDe novoframeshift deletionNM_020869c.2139delCp.P713fs--Fu2022 E
Trost2022 G
Zhou2022 GE
DCDC1     iHART1029chr11:
31099414-31099414
TAintergenicMaternal--Ruzzo2019 G
DCDC1     AU057503chr11:
31045381-31045381
TCintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     iHART2265chr11:
30900177-30900177
AACexonicPaternalframeshift insertionNM_020869c.2626dupGp.V876fs--Ruzzo2019 G
DCDC1     MSSNG00389-003chr11:
31153972-31153972
AGintergenicDe novo--Trost2022 G
DCDC1     1-0092-003chr11:
31204727-31204727
TTAGACintergenicDe novo--Trost2022 G
DCDC1     MSSNG00004-003chr11:
31057494-31057494
GAintergenicDe novo--Trost2022 G
DCDC1     3-0702-000chr11:
31074149-31074149
CTintergenicDe novo--Trost2022 G
DCDC1     35873chr11:
30925196-30925196
GAexonicDe novononsynonymous SNVNM_020869c.C1664Tp.A555V9.726-Trost2022 G
DCDC1     AU4079302chr11:
31234870-31234870
AGintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     MSSNG00165-003chr11:
31048588-31048588
TAintergenicDe novo--Trost2022 G
DCDC1     AU4079302chr11:
31234986-31234986
CGintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     AU4079302chr11:
31342947-31342947
TGintronicDe novo--Yuen2017 G
DCDC1     5-0091-003chr11:
30916600-30916600
GAintronicDe novo--Trost2022 G
DCDC1     3-0454-000chr11:
31360350-31360350
CGintronicDe novo--Trost2022 G
DCDC1     1-1039-003chr11:
31360723-31360723
AGintronicDe novo--Trost2022 G
DCDC1     14642.p1chr11:
31331854-31331854
GTintronicDe novo--Turner2016 G
DCDC1     1-0105-003chr11:
31311367-31311367
GAintronicDe novo--Trost2022 G
DCDC1     4-0108-003chr11:
31343653-31343653
AGintronicDe novo--Trost2022 G
DCDC1     3-0345-001chr11:
31261354-31261354
GCintergenicDe novo--Trost2022 G
DCDC1     AU2194301chr11:
31300257-31300257
CTintronicDe novo--Trost2022 G
DCDC1     10-1155-003chr11:
31205389-31205389
GAintergenicDe novo--Trost2022 G
DCDC1     MSSNG00412-003chr11:
31234693-31234693
TCintergenicDe novo--Trost2022 G
DCDC1     2-0007-003chr11:
31068599-31068599
CGintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     2-0238-003chr11:
31066197-31066197
GAintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     2-1384-003chr11:
31356963-31356963
CTintronicDe novo--Trost2022 G
Yuen2017 G
DCDC1     11729.p1chr11:
31302563-31302563
GTintronicDe novo--Wilfert2021 G
DCDC1     7-0333-003chr11:
31377094-31377094
TAintronicDe novo--Trost2022 G
DCDC1     3-0244-000chr11:
31373393-31373393
ACintronicDe novo--Trost2022 G
DCDC1     7-0333-003chr11:
31376896-31376896
GTintronicDe novo--Trost2022 G
DCDC1     1-0208-003chr11:
31010765-31010765
GCintronicDe novo--Yuen2017 G
DCDC1     AU3997301chr11:
31243678-31243678
CTintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     AU4473301chr11:
31230484-31230484
TCintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     2-1645-003chr11:
30994743-30994743
GAintronicDe novo--Trost2022 G
Yuen2017 G
DCDC1     mAGRE4781chr11:
30914364-30914364
CTsplicingPaternalsplicing14.76-Cirnigliaro2023 G
DCDC1     AU2075302chr11:
30902777-30902777
GAexonicMaternalstopgainNM_020869c.C2473Tp.Q825X-1.661E-5Cirnigliaro2023 G
DCDC1     AU2075301chr11:
30902777-30902777
GAexonicMaternalstopgainNM_020869c.C2473Tp.Q825X-1.661E-5Cirnigliaro2023 G
DCDC1     mAGRE2265chr11:
30900177-30900177
AACexonicPaternalframeshift insertionNM_020869c.2626dupGp.V876fs--Cirnigliaro2023 G
DCDC1     3-0775-000chr11:
30938549-30938549
CTexonicnonsynonymous SNVNM_020869c.G641Ap.R214Q17.128.265E-6Zhou2022 GE
DCDC1     14600.p1chr11:
30925230-30925230
GAexonicnonsynonymous SNVNM_020869c.C1630Tp.L544F18.38-Zhou2022 GE
DCDC1     2-1292-004chr11:
31235070-31235070
CAintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     AU3913303chr11:
31184436-31184436
TGintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     mAGRE5978chr11:
31159276-31159276
GCintergenicMaternal--Cirnigliaro2023 G
DCDC1     1-0494-003Achr11:
30887910-30887910
AGintronicDe novo--Trost2022 G
Yuen2017 G
DCDC1     AU3729301chr11:
31149093-31149093
GAintergenicMaternal-7.02E-5Cirnigliaro2023 G
DCDC1     mAGRE1029chr11:
31099414-31099414
TAintergenicMaternal--Cirnigliaro2023 G
DCDC1     2-0297-003chr11:
31028598-31028598
GTintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     1-0479-006chr11:
31197485-31197485
ACintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     2-1429-003chr11:
31175104-31175104
CAintergenicDe novo--Yuen2017 G
DCDC1     11572.p1chr11:
30925196-30925196
GAexonicDe novononsynonymous SNVNM_020869c.C1664Tp.A555V9.726-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
DCDC1     AU2123301chr11:
31180007-31180007
TCintergenicDe novo--Trost2022 G
Yuen2017 G
DCDC1     1-0494-003chr11:
30887910-30887910
AGintronicDe novo--Yuen2017 G
DCDC1     1-0546-003chr11:
31022395-31022395
ATintergenicDe novo--Yuen2017 G
DCDC1     1-0582-003chr11:
31381092-31381092
TAintronicDe novo--Yuen2017 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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