ClinVar

NM_001122630.2(CDKN1C):c.576C>A (p.Ala192=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 2884881 (on Assembly GRCh38)
• Chr11: 2906111 (on Assembly GRCh37)

Preferred name:

NM_001122630.2(CDKN1C):c.576C>A (p.Ala192=)

HGVS:

• NC_000011.10:g.2884881G>T
• NG_008022.1:g.5885C>A
• NG_121670.1:g.217G>T
• NM_000076.2:c.609C>A
• NM_001122630.2:c.576C>AMANE SELECT
• NM_001122631.2:c.576C>A
• NM_001362474.2:c.609C>A
• NM_001362475.2:c.255+321C>A
• NP_000067.1:p.Ala203=
• NP_001116102.1:p.Ala192=
• NP_001116103.1:p.Ala192=
• NP_001349403.1:p.Ala203=
• LRG_533t1:c.609C>A
• LRG_533:g.5885C>A
• LRG_533p1:p.Ala203=
• NC_000011.9:g.2906111G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001362475.2:c.255+321C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000076.2:c.609C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122630.2:c.576C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122631.2:c.576C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001362474.2:c.609C>A - synonymous variant - [Sequence Ontology: SO:0001819]