chr9:21974686:G>T Detail (hg38) (CDKN2A)

Information

Genome

Assembly Position
hg19 chr9:21,974,685-21,974,685 View the variant detail on this assembly version.
hg38 chr9:21,974,686-21,974,686

HGVS

Type Transcript Protein
RefSeq NM_000077.4:c.142C>A NP_000068.1:p.Pro48Thr
NM_001195132.1:c.142C>A NP_001182061.1:p.Pro48Thr
NM_058195.3:c.194-3478C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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
Pathogenic 2024-01-10 criteria provided, single submitter familial melanoma germline Detail
Pathogenic Likely pathogenic 2022-05-06 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.145 Hereditary Melanoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) AND Familial melanoma ClinVar Detail
NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) AND Hereditary cancer-predisposing syndrome 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
rs786204195 dbSNP
Genome
hg38
Position
chr9:21,974,686-21,974,686
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser