ClinVar

NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 156344500 (on Assembly GRCh38)
• Chr5: 155771510 (on Assembly GRCh37)

Preferred name:

NM_000337.6(SGCD):c.15G>C (p.Glu5Asp)

Other names:

p.E5D:GAG>GAC

HGVS:

• NC_000005.10:g.156344500G>C
• NG_008693.2:g.479157G>C
• NM_000337.6:c.15G>CMANE SELECT
• NM_001128209.2:c.12G>C
• NM_172244.3:c.15G>C
• NP_000328.2:p.Glu5Asp
• NP_000328.2:p.Glu5Asp
• NP_001121681.1:p.Glu4Asp
• NP_758447.1:p.Glu5Asp
• LRG_205t1:c.15G>C
• LRG_205:g.479157G>C
• LRG_205p1:p.Glu5Asp
• NC_000005.9:g.155771510G>C
• NM_000337.5:c.15G>C

This HGVS expression did not pass validation

Protein change:

E4D

Links:

dbSNP: rs549319429

NCBI 1000 Genomes Browser:

rs549319429

Molecular consequence:

• NM_000337.6:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128209.2:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_172244.3:c.15G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1