ClinVar

NM_001243133.2(NLRP3):c.443G>A (p.Cys148Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247423892 (on Assembly GRCh38)
• Chr1: 247587194 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.443G>A (p.Cys148Tyr)

HGVS:

• NC_000001.11:g.247423892G>A
• NG_007509.2:g.12720G>A
• NM_001079821.3:c.443G>A
• NM_001127461.3:c.443G>A
• NM_001127462.3:c.443G>A
• NM_001243133.2:c.443G>AMANE SELECT
• NM_004895.5:c.449G>A
• NM_183395.3:c.443G>A
• NP_001073289.2:p.Cys148Tyr
• NP_001120933.2:p.Cys148Tyr
• NP_001120934.2:p.Cys148Tyr
• NP_001230062.1:p.Cys148Tyr
• NP_001230062.1:p.Cys148Tyr
• NP_004886.3:p.Cys150Tyr
• NP_899632.2:p.Cys148Tyr
• LRG_197:g.12720G>A
• NC_000001.10:g.247587194G>A
• NM_001243133.1:c.443G>A

This HGVS expression did not pass validation

Protein change:

C148Y

Links:

dbSNP: rs180177487

NCBI 1000 Genomes Browser:

rs180177487

Molecular consequence:

• NM_001079821.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127461.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127462.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243133.2:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004895.5:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183395.3:c.443G>A - missense variant - [Sequence Ontology: SO:0001583]