chr1:172664210:A>G Detail (hg38) (FASLG)

Information

Genome

Assembly Position
hg19 chr1:172,633,350-172,633,350 View the variant detail on this assembly version.
hg38 chr1:172,664,210-172,664,210

HGVS

Type Transcript Protein
RefSeq NM_001302746.1:c.349-124A>G
NM_000639.2:c.395-124A>G
Ensemble ENST00000340030.4:c.349-124A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 134638 OMIM
HGNC 11936 HGNC
Ensembl ENSG00000117560 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv302655005 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-08 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Squamous cell carcinoma of oropharynx Thus, we determined the associations between four FAS and FASLG promoter variant... BeFree 25976983 Detail
<0.001 Squamous cell carcinoma of oropharynx Thus, we determined the associations between four FAS and FASLG promoter variant... BeFree 25976983 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000639.3(FASLG):c.395-124A>G AND not provided ClinVar Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G&gt;A, rs... DisGeNET Detail
Thus, we determined the associations between four FAS and FASLG promoter variants (FAS1377G&gt;A, rs... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5030772 dbSNP
Genome
hg38
Position
chr1:172,664,210-172,664,210
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser