ClinVar

NM_001122630.2(CDKN1C):c.516C>T (p.Ala172=)

Gene:

CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2884941 (on Assembly GRCh38)
• Chr11: 2906171 (on Assembly GRCh37)

Preferred name:

NM_001122630.2(CDKN1C):c.516C>T (p.Ala172=)

HGVS:

• NC_000011.10:g.2884941G>A
• NG_008022.1:g.5825C>T
• NM_000076.2:c.549C>T
• NM_001122630.2:c.516C>TMANE SELECT
• NM_001122631.2:c.516C>T
• NM_001362474.2:c.549C>T
• NM_001362475.2:c.255+261C>T
• NP_000067.1:p.Ala183=
• NP_001116102.1:p.Ala172=
• NP_001116103.1:p.Ala172=
• NP_001349403.1:p.Ala183=
• LRG_533t1:c.549C>T
• LRG_533:g.5825C>T
• LRG_533p1:p.Ala183=
• NC_000011.9:g.2906171G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1462682672

NCBI 1000 Genomes Browser:

rs1462682672

Molecular consequence:

• NM_001362475.2:c.255+261C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000076.2:c.549C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122630.2:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122631.2:c.516C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362474.2:c.549C>T - synonymous variant - [Sequence Ontology: SO:0001819]