ClinVar

NM_001243133.2(NLRP3):c.397+6C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247423355 (on Assembly GRCh38)
• Chr1: 247586657 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.397+6C>T

HGVS:

• NC_000001.11:g.247423355C>T
• NG_007509.2:g.12183C>T
• NM_001079821.3:c.397+6C>T
• NM_001127461.3:c.397+6C>T
• NM_001127462.3:c.397+6C>T
• NM_001243133.2:c.397+6C>TMANE SELECT
• NM_004895.5:c.403+6C>T
• NM_183395.3:c.397+6C>T
• LRG_197t1:c.403+6C>T
• LRG_197:g.12183C>T
• NC_000001.10:g.247586657C>T
• NM_004895.4:c.403+6C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs201165941

NCBI 1000 Genomes Browser:

rs201165941

Molecular consequence:

• NM_001079821.3:c.397+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127461.3:c.397+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127462.3:c.397+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243133.2:c.397+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004895.5:c.403+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_183395.3:c.397+6C>T - intron variant - [Sequence Ontology: SO:0001627]