chr4:122924114:C>A Detail (hg38) (AFG2A)

Information

Genome

Assembly Position
hg19 chr4:123,845,269-123,845,269 View the variant detail on this assembly version.
hg38 chr4:122,924,114-122,924,114

HGVS

Type Transcript Protein
RefSeq NM_001317799.1:c.163+809C>A
NM_145207.2:c.163+809C>A
Ensemble ENST00000274008.5:c.163+809C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 613940 OMIM
HGNC 18119 HGNC
Ensembl ENSG00000145375 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv329465999 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 age related macular degeneration A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associat... BeFree 21106043 Detail
<0.001 Atrophic condition of skin A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associat... BeFree 21106043 Detail
<0.001 Atrophic condition of skin A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associat... BeFree 21106043 Detail
Annotation

Annotations

DescrptionSourceLinks
A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD... DisGeNET Detail
A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD... DisGeNET Detail
A variant located at the 3' UTR of the FGF2 gene (rs6820411) was highly associated with atrophic AMD... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6820411 dbSNP
Genome
hg38
Position
chr4:122,924,114-122,924,114
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser