ClinVar

NM_000023.4(SGCA):c.312G>A (p.Glu104=)

Gene:

SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

• Chr17: 50167736 (on Assembly GRCh38)
• Chr17: 48245097 (on Assembly GRCh37)

Preferred name:

NM_000023.4(SGCA):c.312G>A (p.Glu104=)

HGVS:

• NC_000017.11:g.50167736G>A
• NG_008889.1:g.6732G>A
• NM_000023.4:c.312G>AMANE SELECT
• NM_001135697.3:c.312G>A
• NP_000014.1:p.Glu104=
• NP_001129169.1:p.Glu104=
• LRG_203:g.6732G>A
• NC_000017.10:g.48245097G>A
• NR_135553.2:n.348G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs886044401

NCBI 1000 Genomes Browser:

rs886044401

Molecular consequence:

• NR_135553.2:n.348G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000023.4:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135697.3:c.312G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2