ClinVar

NM_004522.3(KIF5C):c.1431T>C (p.Asn477=)

Gene:

KIF5C:kinesin family member 5C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.1

Genomic location:

• Chr2: 148981423 (on Assembly GRCh38)
• Chr2: 149837937 (on Assembly GRCh37)

Preferred name:

NM_004522.3(KIF5C):c.1431T>C (p.Asn477=)

HGVS:

• NC_000002.12:g.148981423T>C
• NG_042216.1:g.111201T>C
• NM_004522.3:c.1431T>CMANE SELECT
• NP_004513.1:p.Asn477=
• NC_000002.11:g.149837937T>C
• NM_004522.2:c.1431T>C
• NR_111932.2:n.803T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs917200332

NCBI 1000 Genomes Browser:

rs917200332

Molecular consequence:

• NR_111932.2:n.803T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_004522.3:c.1431T>C - synonymous variant - [Sequence Ontology: SO:0001819]