ClinVar

NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 156344517 (on Assembly GRCh38)
• Chr5: 155771527 (on Assembly GRCh37)

Preferred name:

NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)

Other names:

p.R11Q:CGG>CAG; NM_001128209.1:c.29G>A; NM_172244.2:c.32G>A; XM_005265965.1:c.32G>A; XM_005265966.1:c.32G>A; XM_005265967.1:c.32G>A

HGVS:

• NC_000005.10:g.156344517G>A
• NG_008693.2:g.479174G>A
• NM_000337.6:c.32G>AMANE SELECT
• NM_001128209.2:c.29G>A
• NM_172244.3:c.32G>A
• NP_000328.2:p.Arg11Gln
• NP_000328.2:p.Arg11Gln
• NP_001121681.1:p.Arg10Gln
• NP_758447.1:p.Arg11Gln
• LRG_205t1:c.32G>A
• LRG_205:g.479174G>A
• LRG_205p1:p.Arg11Gln
• NC_000005.9:g.155771527G>A
• NM_000337.5:c.32G>A

This HGVS expression did not pass validation

Protein change:

R10Q

Links:

dbSNP: rs752548592

NCBI 1000 Genomes Browser:

rs752548592

Molecular consequence:

• NM_000337.6:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128209.2:c.29G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172244.3:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]