ClinVar

NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)

Gene:

CDK5RAP2:CDK5 regulatory subunit associated protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

• Chr9: 120530054 (on Assembly GRCh38)
• Chr9: 123292332 (on Assembly GRCh37)

Preferred name:

NM_018249.6(CDK5RAP2):c.749C>T (p.Pro250Leu)

HGVS:

• NC_000009.12:g.120530054G>A
• NG_008999.1:g.55106C>T
• NM_001011649.3:c.749C>T
• NM_001272039.2:c.749C>T
• NM_018249.6:c.749C>TMANE SELECT
• NP_001011649.1:p.Pro250Leu
• NP_001258968.1:p.Pro250Leu
• NP_060719.4:p.Pro250Leu
• NC_000009.11:g.123292332G>A
• NM_018249.4:c.749C>T
• NR_073554.2:n.938C>T
• NR_073555.2:n.938C>T
• NR_073556.2:n.935C>T
• NR_073557.2:n.938C>T
• NR_073558.2:n.935C>T

This HGVS expression did not pass validation

Protein change:

P250L

Links:

dbSNP: rs568558844

NCBI 1000 Genomes Browser:

rs568558844

Molecular consequence:

• NM_001011649.3:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001272039.2:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018249.6:c.749C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_073554.2:n.938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073555.2:n.938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073556.2:n.935C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073557.2:n.938C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_073558.2:n.935C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]