ClinVar

NM_058195.4(CDKN2A):c.194-3810G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.3

Genomic location:

• Chr9: 21975018 (on Assembly GRCh38)
• Chr9: 21975017 (on Assembly GRCh37)

Preferred name:

NM_058195.4(CDKN2A):c.194-3810G>A

HGVS:

• NC_000009.12:g.21975018C>T
• NG_007485.1:g.24474G>A
• NG_181050.1:g.34C>T
• NM_000077.4:c.-191G>A
• NM_001195132.1:c.-191G>A
• NM_001363763.2:c.-3-3810G>A
• NM_058195.4:c.194-3810G>A
• NM_058197.3:c.-191G>A
• LRG_11t1:c.-191G>A
• LRG_11t2:c.194-3810G>A
• LRG_11:g.24474G>A
• NC_000009.11:g.21975017C>T
• NM_058195.3:c.194-3810G>A
• NM_058195.4:c.194-3810G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3814960

NCBI 1000 Genomes Browser:

rs3814960

Molecular consequence:

• NM_001363763.2:c.-3-3810G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_058195.4:c.194-3810G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1