ClinVar

NM_017632.4(CDKN2AIP):c.264C>T (p.Leu88=)

Genes:

LOC129993434:ATAC-STARR-seq lymphoblastoid active region 22184 [Gene]
CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.1

Genomic location:

• Chr4: 183445061 (on Assembly GRCh38)
• Chr4: 184366214 (on Assembly GRCh37)

Preferred name:

NM_017632.4(CDKN2AIP):c.264C>T (p.Leu88=)

HGVS:

• NC_000004.12:g.183445061C>T
• NG_050671.1:g.5427C>T
• NG_172880.1:g.221C>T
• NM_001317343.2:c.264C>T
• NM_017632.4:c.264C>TMANE SELECT
• NP_001304272.1:p.Leu88=
• NP_060102.1:p.Leu88=
• NC_000004.11:g.184366214C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001317343.2:c.264C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017632.4:c.264C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1