ClinVar

NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)

Gene:

SH2B3:SH2B adaptor protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.12

Genomic location:

• Chr12: 111447506 (on Assembly GRCh38)
• Chr12: 111885310 (on Assembly GRCh37)

Preferred name:

NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)

HGVS:

• NC_000012.12:g.111447506G>A
• NG_011572.3:g.157171C>T
• NG_021216.1:g.46559G>A
• NM_001291424.1:c.592G>A
• NM_005475.3:c.1198G>AMANE SELECT
• NP_001278353.1:p.Glu198Lys
• NP_005466.1:p.Glu400Lys
• LRG_621t2:c.592G>A
• LRG_621:g.46559G>A
• LRG_621p2:p.Glu198Lys
• LRG_864:g.157171C>T
• NC_000012.11:g.111885310G>A

This HGVS expression did not pass validation

Protein change:

E198K

Links:

dbSNP: rs72650673

NCBI 1000 Genomes Browser:

rs72650673

Molecular consequence:

• NM_001291424.1:c.592G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005475.3:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3