ClinVar

NM_000231.3(SGCG):c.347G>A (p.Arg116His)

Gene:

SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23250679 (on Assembly GRCh38)
• Chr13: 23824818 (on Assembly GRCh37)

Preferred name:

NM_000231.3(SGCG):c.347G>A (p.Arg116His)

Other names:

NM_000231.2(SGCG):c.347G>A(p.Arg116His)

HGVS:

• NC_000013.11:g.23250679G>A
• NG_008759.1:g.74759G>A
• NM_000231.3:c.347G>AMANE SELECT
• NM_001378244.1:c.401G>A
• NM_001378245.1:c.347G>A
• NM_001378246.1:c.347G>A
• NP_000222.1:p.Arg116His
• NP_000222.2:p.Arg116His
• NP_001365173.1:p.Arg134His
• NP_001365174.1:p.Arg116His
• NP_001365175.1:p.Arg116His
• LRG_207t1:c.347G>A
• LRG_207:g.74759G>A
• LRG_207p1:p.Arg116His
• NC_000013.10:g.23824818G>A
• NM_000231.2:c.347G>A
• Q13326:p.Arg116His

This HGVS expression did not pass validation

Protein change:

R116H

Links:

UniProtKB: Q13326#VAR_010397; dbSNP: rs17314986

NCBI 1000 Genomes Browser:

rs17314986

Molecular consequence:

• NM_000231.3:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378244.1:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378245.1:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378246.1:c.347G>A - missense variant - [Sequence Ontology: SO:0001583]