ClinVar

NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser)

Gene:

CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.3

Genomic location:

• Chr9: 21994172 (on Assembly GRCh38)
• Chr9: 21994171 (on Assembly GRCh37)

Preferred name:

NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser)

HGVS:

• NC_000009.12:g.21994172G>T
• NG_007485.1:g.5320C>A
• NM_000077.5:c.-19345C>AMANE SELECT
• NM_001363763.2:c.-4+649C>A
• NM_058195.4:c.160C>A
• NP_478102.2:p.Arg54Ser
• NP_478102.2:p.Arg54Ser
• LRG_11t2:c.160C>A
• LRG_11:g.5320C>A
• LRG_11p2:p.Arg54Ser
• NC_000009.11:g.21994171G>T
• NM_058195.3:c.160C>A

This HGVS expression did not pass validation

Protein change:

R54S

Links:

dbSNP: rs896054565

NCBI 1000 Genomes Browser:

rs896054565

Molecular consequence:

• NM_000077.5:c.-19345C>A - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001363763.2:c.-4+649C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_058195.4:c.160C>A - missense variant - [Sequence Ontology: SO:0001583]