ClinVar

NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2884872 (on Assembly GRCh38)
• Chr11: 2906102 (on Assembly GRCh37)

Preferred name:

NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=)

HGVS:

• NC_000011.10:g.2884872C>T
• NG_008022.1:g.5894G>A
• NM_000076.2:c.618G>A
• NM_001122630.2:c.585G>AMANE SELECT
• NM_001122631.2:c.585G>A
• NM_001362474.2:c.618G>A
• NM_001362475.2:c.255+330G>A
• NP_000067.1:p.Pro206=
• NP_001116102.1:p.Pro195=
• NP_001116103.1:p.Pro195=
• NP_001349403.1:p.Pro206=
• LRG_533t1:c.618G>A
• LRG_533:g.5894G>A
• LRG_533p1:p.Pro206=
• NC_000011.9:g.2906102C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1060503858

NCBI 1000 Genomes Browser:

rs1060503858

Molecular consequence:

• NM_001362475.2:c.255+330G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000076.2:c.618G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122630.2:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122631.2:c.585G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362474.2:c.618G>A - synonymous variant - [Sequence Ontology: SO:0001819]