ClinVar

NM_007373.4(SHOC2):c.52G>A (p.Val18Ile)

Gene:

SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110964410 (on Assembly GRCh38)
• Chr10: 112724168 (on Assembly GRCh37)

Preferred name:

NM_007373.4(SHOC2):c.52G>A (p.Val18Ile)

HGVS:

• NC_000010.11:g.110964410G>A
• NG_028922.1:g.49868G>A
• NM_001269039.3:c.52G>A
• NM_001324336.2:c.52G>A
• NM_001324337.2:c.52G>A
• NM_007373.4:c.52G>AMANE SELECT
• NP_001255968.1:p.Val18Ile
• NP_001311265.1:p.Val18Ile
• NP_001311266.1:p.Val18Ile
• NP_031399.2:p.Val18Ile
• NP_031399.2:p.Val18Ile
• LRG_753t1:c.52G>A
• LRG_753:g.49868G>A
• LRG_753p1:p.Val18Ile
• NC_000010.10:g.112724168G>A
• NM_007373.3:c.52G>A

This HGVS expression did not pass validation

Protein change:

V18I

Links:

dbSNP: rs1226932309

NCBI 1000 Genomes Browser:

rs1226932309

Molecular consequence:

• NM_001269039.3:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324336.2:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324337.2:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007373.4:c.52G>A - missense variant - [Sequence Ontology: SO:0001583]