ClinVar

NM_001243133.2(NLRP3):c.785T>C (p.Val262Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247424234 (on Assembly GRCh38)
• Chr1: 247587536 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.785T>C (p.Val262Ala)

HGVS:

• NC_000001.11:g.247424234T>C
• NG_007509.2:g.13062T>C
• NM_001079821.3:c.785T>C
• NM_001127461.3:c.785T>C
• NM_001127462.3:c.785T>C
• NM_001243133.2:c.785T>CMANE SELECT
• NM_004895.5:c.791T>C
• NM_183395.3:c.785T>C
• NP_001073289.2:p.Val262Ala
• NP_001120933.2:p.Val262Ala
• NP_001120934.2:p.Val262Ala
• NP_001230062.1:p.Val262Ala
• NP_001230062.1:p.Val262Ala
• NP_004886.3:p.Val264Ala
• NP_899632.2:p.Val262Ala
• LRG_197:g.13062T>C
• NC_000001.10:g.247587536T>C
• NM_001243133.1:c.785T>C

This HGVS expression did not pass validation

Protein change:

V262A

Links:

dbSNP: rs104895392

NCBI 1000 Genomes Browser:

rs104895392

Molecular consequence:

• NM_001079821.3:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127461.3:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127462.3:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243133.2:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004895.5:c.791T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_183395.3:c.785T>C - missense variant - [Sequence Ontology: SO:0001583]