ClinVar

NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)

Gene:

NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247424765 (on Assembly GRCh38)
• Chr1: 247588067 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)

HGVS:

• NC_000001.11:g.247424765C>T
• NG_007509.2:g.13593C>T
• NM_001079821.3:c.1316C>T
• NM_001127461.3:c.1316C>T
• NM_001127462.3:c.1316C>T
• NM_001243133.2:c.1316C>TMANE SELECT
• NM_004895.5:c.1322C>T
• NM_183395.3:c.1316C>T
• NP_001073289.2:p.Ala439Val
• NP_001120933.2:p.Ala439Val
• NP_001120934.2:p.Ala439Val
• NP_001230062.1:p.Ala439Val
• NP_001230062.1:p.Ala439Val
• NP_004886.3:p.Ala441Val
• NP_004886.3:p.Ala441Val
• NP_899632.2:p.Ala439Val
• LRG_197t1:c.1322C>T
• LRG_197:g.13593C>T
• LRG_197p1:p.Ala441Val
• NC_000001.10:g.247588067C>T
• NM_001243133.1:c.1316C>T
• NM_004895.4:c.1322C>T

This HGVS expression did not pass validation

Protein change:

A439V; ALA439VAL

Links:

OMIM: 606416.0001; dbSNP: rs121908146

NCBI 1000 Genomes Browser:

rs121908146

Molecular consequence:

• NM_001079821.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127461.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127462.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243133.2:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004895.5:c.1322C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_183395.3:c.1316C>T - missense variant - [Sequence Ontology: SO:0001583]