ClinVar

NM_001243133.2(NLRP3):c.397+42T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247423391 (on Assembly GRCh38)
• Chr1: 247586693 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.397+42T>C

HGVS:

• NC_000001.11:g.247423391T>C
• NG_007509.2:g.12219T>C
• NM_001079821.3:c.397+42T>C
• NM_001127461.3:c.397+42T>C
• NM_001127462.3:c.397+42T>C
• NM_001243133.2:c.397+42T>CMANE SELECT
• NM_004895.5:c.403+42T>C
• NM_183395.3:c.397+42T>C
• LRG_197:g.12219T>C
• NC_000001.10:g.247586693T>C
• NM_001079821.2:c.403+42T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs199475730

NCBI 1000 Genomes Browser:

rs199475730

Molecular consequence:

• NM_001079821.3:c.397+42T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127461.3:c.397+42T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127462.3:c.397+42T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243133.2:c.397+42T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_004895.5:c.403+42T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_183395.3:c.397+42T>C - intron variant - [Sequence Ontology: SO:0001627]