ClinVar

NM_000077.5(CDKN2A):c.81G>T (p.Glu27Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.3

Genomic location:

• Chr9: 21974747 (on Assembly GRCh38)
• Chr9: 21974746 (on Assembly GRCh37)

Preferred name:

NM_000077.5(CDKN2A):c.81G>T (p.Glu27Asp)

HGVS:

• NC_000009.12:g.21974747C>A
• NG_007485.1:g.24745G>T
• NM_000077.5:c.81G>TMANE SELECT
• NM_001195132.2:c.81G>T
• NM_001363763.2:c.-3-3539G>T
• NM_058195.4:c.194-3539G>T
• NM_058197.5:c.81G>T
• NP_000068.1:p.Glu27Asp
• NP_001182061.1:p.Glu27Asp
• NP_478104.2:p.Glu27Asp
• LRG_11t1:c.81G>T
• LRG_11:g.24745G>T
• NC_000009.11:g.21974746C>A
• NM_000077.4:c.81G>T

This HGVS expression did not pass validation

Protein change:

E27D

Links:

dbSNP: rs1060504184

NCBI 1000 Genomes Browser:

rs1060504184

Molecular consequence:

• NM_001363763.2:c.-3-3539G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_058195.4:c.194-3539G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000077.5:c.81G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195132.2:c.81G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_058197.5:c.81G>T - missense variant - [Sequence Ontology: SO:0001583]