ClinVar

NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)

Gene:

KIF22:kinesin family member 22 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 29802873 (on Assembly GRCh38)
• Chr16: 29814194 (on Assembly GRCh37)

Preferred name:

NM_007317.3(KIF22):c.1385G>A (p.Ser462Asn)

HGVS:

• NC_000016.10:g.29802873G>A
• NG_032055.1:g.17161G>A
• NM_001256269.2:c.1181G>A
• NM_001256270.1:c.1181G>A
• NM_007317.3:c.1385G>AMANE SELECT
• NP_001243198.1:p.Ser394Asn
• NP_001243199.1:p.Ser394Asn
• NP_015556.1:p.Ser462Asn
• NC_000016.9:g.29814194G>A

This HGVS expression did not pass validation

Protein change:

S394N

Links:

dbSNP: rs1461250681

NCBI 1000 Genomes Browser:

rs1461250681

Molecular consequence:

• NM_001256269.2:c.1181G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256270.1:c.1181G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007317.3:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1