ClinVar

NM_000337.6(SGCD):c.*7231A>T

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 156766621 (on Assembly GRCh38)
• Chr5: 156193632 (on Assembly GRCh37)

Preferred name:

NM_000337.6(SGCD):c.*7231A>T

HGVS:

• NC_000005.10:g.156766621A>T
• NG_008693.2:g.901279A>T
• NM_000337.6:c.*7231A>TMANE SELECT
• NM_001128209.2:c.*7231A>T
• LRG_205t1:c.*7231A>T
• LRG_205:g.901279A>T
• NC_000005.9:g.156193632A>T
• NM_000337.5:c.*7231A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs766236284

NCBI 1000 Genomes Browser:

rs766236284

Molecular consequence:

• NM_000337.6:c.*7231A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001128209.2:c.*7231A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]