ClinVar

NM_001127453.2(GSDME):c.1051C>T (p.Arg351Trp)

Gene:

GSDME:gasdermin E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

• Chr7: 24706316 (on Assembly GRCh38)
• Chr7: 24745935 (on Assembly GRCh37)

Preferred name:

NM_001127453.2(GSDME):c.1051C>T (p.Arg351Trp)

HGVS:

• NC_000007.14:g.24706316G>A
• NG_011593.1:g.56705C>T
• NM_001127453.2:c.1051C>TMANE SELECT
• NM_001127454.2:c.559C>T
• NM_004403.3:c.1051C>T
• NP_001120925.1:p.Arg351Trp
• NP_001120926.1:p.Arg187Trp
• NP_004394.1:p.Arg351Trp
• LRG_1428t1:c.1051C>T
• LRG_1428:g.56705C>T
• LRG_1428p1:p.Arg351Trp
• NC_000007.13:g.24745935G>A
• NM_004403.2:c.1051C>T

This HGVS expression did not pass validation

Protein change:

R187W

Molecular consequence:

• NM_001127453.2:c.1051C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127454.2:c.559C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004403.3:c.1051C>T - missense variant - [Sequence Ontology: SO:0001583]