ClinVar

NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)

Gene:

SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

• Chr17: 50175288 (on Assembly GRCh38)
• Chr17: 48252649 (on Assembly GRCh37)

Preferred name:

NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)

HGVS:

• NC_000017.11:g.50175288G>A
• NG_008889.1:g.14284G>A
• NM_000023.4:c.1015G>AMANE SELECT
• NM_001135697.3:c.643G>A
• NP_000014.1:p.Gly339Arg
• NP_001129169.1:p.Gly215Arg
• LRG_203t1:c.1015G>A
• LRG_203:g.14284G>A
• NC_000017.10:g.48252649G>A
• NM_000023.2:c.1015G>A
• NM_000023.3:c.1015G>A
• NR_135553.2:n.842G>A

This HGVS expression did not pass validation

Protein change:

G215R

Links:

dbSNP: rs540254057

NCBI 1000 Genomes Browser:

rs540254057

Molecular consequence:

• NM_000023.4:c.1015G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135697.3:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_135553.2:n.842G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1