chr9:21974679:T>G Detail (hg38) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,974,678-21,974,678 View the variant detail on this assembly version.
hg38 chr9:21,974,679-21,974,679

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.149A>C NP_000068.1:p.Gln50Pro
NM_001195132.1:c.149A>C NP_001182061.1:p.Gln50Pro
NM_058195.3:c.194-3471A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600160 OMIM
HGNC 1787 HGNC
Ensembl ENSG00000147889 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2024-01-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2023-08-30 criteria provided, single submitter familial melanoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) AND Familial melanoma ClinVar Detail
NA DisGeNET 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
rs587778189 dbSNP
Genome
hg38
Position
chr9:21,974,679-21,974,679
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser