chr3:10105543:A>G Detail (hg19) (FANCD2, LOC107303338)

Information

Genome

Assembly Position
hg19 chr3:10,105,543-10,105,543
hg38 chr3:10,063,859-10,063,859 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_033084.4:c.1895A>G NP_149075.2:p.Tyr632Cys
NM_001319984.1:c.1895A>G NP_001306913.1:p.Tyr632Cys
Ensemble ENST00000287647.7:c.1895A>G ENST00000287647.7:p.Tyr632Cys
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 613984 OMIM
HGNC 3585 HGNC
Ensembl ENSG00000144554 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-09-17 criteria provided, single submitter Fanconi anemia germline Detail
Uncertain significance 2021-07-19 criteria provided, single submitter Fanconi anemia complementation group D2 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) AND Fanconi anemia ClinVar Detail
NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) AND Fanconi anemia complementation group D2 ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs770231582 dbSNP
Genome
hg19
Position
chr3:10,105,543-10,105,543
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121342
Allele Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
8.241169586787756E-6
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