ClinVar

NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)

Gene:

KIF21A:kinesin family member 21A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q12

Genomic location:

• Chr12: 39332404 (on Assembly GRCh38)
• Chr12: 39726206 (on Assembly GRCh37)

Preferred name:

NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)

HGVS:

• NC_000012.12:g.39332404C>T
• NG_017067.1:g.115987G>A
• NM_001173463.2:c.2822G>A
• NM_001173464.2:c.2861G>AMANE SELECT
• NM_001173465.2:c.2753G>A
• NM_017641.4:c.2822G>A
• NP_001166934.1:p.Arg941Gln
• NP_001166935.1:p.Arg954Gln
• NP_001166936.1:p.Arg918Gln
• NP_060111.2:p.Arg941Gln
• NC_000012.11:g.39726206C>T
• NM_017641.3:c.2822G>A
• Q7Z4S6:p.Arg954Gln

This HGVS expression did not pass validation

Protein change:

R918Q; ARG954GLN

Links:

UniProtKB: Q7Z4S6#VAR_019402; OMIM: 608283.0002; dbSNP: rs121912586

NCBI 1000 Genomes Browser:

rs121912586

Molecular consequence:

• NM_001173463.2:c.2822G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173464.2:c.2861G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001173465.2:c.2753G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017641.4:c.2822G>A - missense variant - [Sequence Ontology: SO:0001583]