ClinVar

NM_000337.6(SGCD):c.4-12C>T

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 156344477 (on Assembly GRCh38)
• Chr5: 155771487 (on Assembly GRCh37)

Preferred name:

NM_000337.6(SGCD):c.4-12C>T

HGVS:

• NC_000005.10:g.156344477C>T
• NG_008693.2:g.479134C>T
• NM_000337.6:c.4-12C>TMANE SELECT
• NM_001128209.2:c.1-12C>T
• NM_172244.3:c.4-12C>T
• LRG_205t1:c.4-12C>T
• LRG_205:g.479134C>T
• NC_000005.9:g.155771487C>T
• NM_000337.5:c.4-12C>T
• NM_172244.2:c.4-12C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs727504580

NCBI 1000 Genomes Browser:

rs727504580

Molecular consequence:

• NM_000337.6:c.4-12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001128209.2:c.1-12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172244.3:c.4-12C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1