ClinVar

NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu)

Gene:

SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 2829619 (on Assembly GRCh38)
• Chr4: 2831346 (on Assembly GRCh37)

Preferred name:

NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu)

Other names:

p.Pro238Leu

HGVS:

• NC_000004.12:g.2829619C>T
• NG_011609.1:g.41597C>T
• NM_001122681.2:c.713C>TMANE SELECT
• NM_001145855.2:c.797C>T
• NM_001145856.2:c.884C>T
• NM_003023.4:c.713C>T
• NP_001116153.1:p.Pro238Leu
• NP_001139327.1:p.Pro266Leu
• NP_001139328.1:p.Pro295Leu
• NP_003014.3:p.Pro238Leu
• LRG_1334t1:c.713C>T
• LRG_1334t2:c.797C>T
• LRG_1334:g.41597C>T
• LRG_1334p1:p.Pro238Leu
• LRG_1334p2:p.Pro266Leu
• NC_000004.11:g.2831346C>T

This HGVS expression did not pass validation

Protein change:

P238L

Links:

dbSNP: rs369270340

NCBI 1000 Genomes Browser:

rs369270340

Molecular consequence:

• NM_001122681.2:c.713C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145855.2:c.797C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145856.2:c.884C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003023.4:c.713C>T - missense variant - [Sequence Ontology: SO:0001583]