ClinVar

NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)

Gene:

GSDME:gasdermin E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

• Chr7: 24702809 (on Assembly GRCh38)
• Chr7: 24742428 (on Assembly GRCh37)

Preferred name:

NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)

HGVS:

• NC_000007.14:g.24702809A>G
• NG_011593.1:g.60212T>C
• NM_001127453.2:c.1208T>CMANE SELECT
• NM_001127454.2:c.716T>C
• NM_004403.3:c.1208T>C
• NP_001120925.1:p.Leu403Pro
• NP_001120926.1:p.Leu239Pro
• NP_004394.1:p.Leu403Pro
• LRG_1428t1:c.1208T>C
• LRG_1428:g.60212T>C
• LRG_1428p1:p.Leu403Pro
• NC_000007.13:g.24742428A>G
• NM_004403.2:c.1208T>C

This HGVS expression did not pass validation

Protein change:

L239P

Links:

dbSNP: rs199971778

NCBI 1000 Genomes Browser:

rs199971778

Molecular consequence:

• NM_001127453.2:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127454.2:c.716T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004403.3:c.1208T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1