ClinVar

NM_004984.4(KIF5A):c.2813C>T (p.Thr938Ile)

Gene:

KIF5A:kinesin family member 5A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

• Chr12: 57581472 (on Assembly GRCh38)
• Chr12: 57975255 (on Assembly GRCh37)

Preferred name:

NM_004984.4(KIF5A):c.2813C>T (p.Thr938Ile)

HGVS:

• NC_000012.12:g.57581472C>T
• NG_008155.1:g.36409C>T
• NM_001354705.2:c.2546C>T
• NM_004984.4:c.2813C>TMANE SELECT
• NP_001341634.1:p.Thr849Ile
• NP_004975.2:p.Thr938Ile
• NC_000012.11:g.57975255C>T

This HGVS expression did not pass validation

Protein change:

T849I

Molecular consequence:

• NM_001354705.2:c.2546C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004984.4:c.2813C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1