ClinVar

NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)

Gene:

KIR3DL1:killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 54818581 (on Assembly GRCh38)
• Chr19: 55330036 (on Assembly GRCh37)
• Chr19/NT_113949.1: 72187 (on Assembly NCBI36)

Preferred name:

NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)

HGVS:

• NC_000019.10:g.54818581G>A
• NG_021414.2:g.7144G>A
• NM_013289.4:c.337G>AMANE SELECT
• NP_037421.2:p.Val113Met
• NP_037421.2:p.Val113Met
• NC_000019.9:g.55330036G>A
• NM_013289.2:c.337G>A

This HGVS expression did not pass validation

Protein change:

V113M

Molecular consequence:

• NM_013289.4:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]