chr16:89874697:G>A Detail (hg19) (FANCA)

Information

Genome

Assembly Position
hg19 chr16:89,874,697-89,874,697
hg38 chr16:89,808,289-89,808,289 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000135.2:c.596+5C>T
NM_001286167.1:c.596+5C>T
Ensemble ENST00000534992.5:c.596+5C>T
Summary

MGeND

Clinical significance not provided
Variant entry 3
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 607139 OMIM
HGNC 3582 HGNC
Ensembl ENSG00000187741 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5493493 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of gallbladder not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-07-19 criteria provided, single submitter Fanconi anemia germline Detail
Uncertain significance 2023-06-29 criteria provided, single submitter not provided unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000135.4(FANCA):c.596+5C>T AND Fanconi anemia ClinVar Detail
NM_000135.4(FANCA):c.596+5C>T AND not provided ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs758345423 dbSNP
Genome
hg19
Position
chr16:89,874,697-89,874,697
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.623208506703652E-4
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.120856478810556E-5
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