ClinVar

NM_000231.3(SGCG):c.643G>A (p.Ala215Thr)

Gene:

SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

• Chr13: 23320701 (on Assembly GRCh38)
• Chr13: 23894840 (on Assembly GRCh37)

Preferred name:

NM_000231.3(SGCG):c.643G>A (p.Ala215Thr)

HGVS:

• NC_000013.11:g.23320701G>A
• NG_008759.1:g.144781G>A
• NM_000231.3:c.643G>AMANE SELECT
• NM_001378244.1:c.697G>A
• NM_001378245.1:c.643G>A
• NM_001378246.1:c.643G>A
• NP_000222.2:p.Ala215Thr
• NP_001365173.1:p.Ala233Thr
• NP_001365174.1:p.Ala215Thr
• NP_001365175.1:p.Ala215Thr
• LRG_207:g.144781G>A
• NC_000013.10:g.23894840G>A

This HGVS expression did not pass validation

Protein change:

A215T

Links:

dbSNP: rs770020910

NCBI 1000 Genomes Browser:

rs770020910

Molecular consequence:

• NM_000231.3:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378244.1:c.697G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378245.1:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378246.1:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1