ClinVar

NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110964545 (on Assembly GRCh38)
• Chr10: 112724303 (on Assembly GRCh37)

Preferred name:

NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)

HGVS:

• NC_000010.11:g.110964545G>A
• NG_028922.1:g.50003G>A
• NM_001269039.3:c.187G>A
• NM_001324336.2:c.187G>A
• NM_001324337.2:c.187G>A
• NM_007373.4:c.187G>AMANE SELECT
• NP_001255968.1:p.Gly63Arg
• NP_001311265.1:p.Gly63Arg
• NP_001311266.1:p.Gly63Arg
• NP_031399.2:p.Gly63Arg
• LRG_753t1:c.187G>A
• LRG_753:g.50003G>A
• NC_000010.10:g.112724303G>A
• NM_007373.3:c.187G>A

This HGVS expression did not pass validation

Protein change:

G63R

Links:

Molecular consequence:

• NM_001269039.3:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324336.2:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324337.2:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007373.4:c.187G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1