ClinVar

NM_018249.6(CDK5RAP2):c.5579-34G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.2

Genomic location:

• Chr9: 120389821 (on Assembly GRCh38)
• Chr9: 123152099 (on Assembly GRCh37)

Preferred name:

NM_018249.6(CDK5RAP2):c.5579-34G>C

HGVS:

• NC_000009.12:g.120389821C>G
• NG_008999.1:g.195339G>C
• NM_001011649.3:c.5342-34G>C
• NM_001272039.2:c.4889-34G>C
• NM_018249.6:c.5579-34G>CMANE SELECT
• NC_000009.11:g.123152099C>G
• NM_018249.4:c.5579-34G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs2297457

NCBI 1000 Genomes Browser:

rs2297457

Molecular consequence:

• NM_001011649.3:c.5342-34G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001272039.2:c.4889-34G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_018249.6:c.5579-34G>C - intron variant - [Sequence Ontology: SO:0001627]