ClinVar

NM_139167.4(SGCZ):c.502G>T (p.Asp168Tyr)

Gene:

SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p22

Genomic location:

• Chr8: 14164625 (on Assembly GRCh38)
• Chr8: 14022134 (on Assembly GRCh37)

Preferred name:

NM_139167.4(SGCZ):c.502G>T (p.Asp168Tyr)

HGVS:

• NC_000008.11:g.14164625C>A
• NG_008899.1:g.1078659G>T
• NM_001322879.2:c.400G>T
• NM_001322880.2:c.425-56390G>T
• NM_001322881.2:c.203-56390G>T
• NM_139167.4:c.502G>TMANE SELECT
• NP_001309808.1:p.Asp134Tyr
• NP_631906.2:p.Asp168Tyr
• NP_631906.2:p.Asp168Tyr
• LRG_208t1:c.502G>T
• LRG_208:g.1078659G>T
• LRG_208p1:p.Asp168Tyr
• NC_000008.10:g.14022134C>A
• NM_139167.2:c.502G>T

This HGVS expression did not pass validation

Protein change:

D134Y

Molecular consequence:

• NM_001322880.2:c.425-56390G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322881.2:c.203-56390G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322879.2:c.400G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_139167.4:c.502G>T - missense variant - [Sequence Ontology: SO:0001583]