ClinVar

NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.3

Genomic location:

• Chr9: 21974680 (on Assembly GRCh38)
• Chr9: 21974679 (on Assembly GRCh37)

Preferred name:

NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys)

HGVS:

• NC_000009.12:g.21974680G>T
• NG_007485.1:g.24812C>A
• NM_000077.5:c.148C>AMANE SELECT
• NM_001195132.2:c.148C>A
• NM_001363763.2:c.-3-3472C>A
• NM_058195.4:c.194-3472C>A
• NM_058197.5:c.148C>A
• NP_000068.1:p.Gln50Lys
• NP_001182061.1:p.Gln50Lys
• NP_478104.2:p.Gln50Lys
• LRG_11:g.24812C>A
• NC_000009.11:g.21974679G>T

This HGVS expression did not pass validation

Protein change:

Q50K

Links:

dbSNP: rs864622636

NCBI 1000 Genomes Browser:

rs864622636

Molecular consequence:

• NM_001363763.2:c.-3-3472C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_058195.4:c.194-3472C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000077.5:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195132.2:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_058197.5:c.148C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1