ClinVar

NM_001243133.2(NLRP3):c.999C>A (p.Leu333=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247424448 (on Assembly GRCh38)
• Chr1: 247587750 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.999C>A (p.Leu333=)

HGVS:

• NC_000001.11:g.247424448C>A
• NG_007509.2:g.13276C>A
• NM_001079821.3:c.999C>A
• NM_001127461.3:c.999C>A
• NM_001127462.3:c.999C>A
• NM_001243133.2:c.999C>AMANE SELECT
• NM_004895.5:c.1005C>A
• NM_183395.3:c.999C>A
• NP_001073289.2:p.Leu333=
• NP_001120933.2:p.Leu333=
• NP_001120934.2:p.Leu333=
• NP_001230062.1:p.Leu333=
• NP_004886.3:p.Leu335=
• NP_004886.3:p.Leu335=
• NP_899632.2:p.Leu333=
• LRG_197t1:c.1005C>A
• LRG_197:g.13276C>A
• LRG_197p1:p.Leu335=
• NC_000001.10:g.247587750C>A
• NC_000001.10:g.247587750C>A
• NM_004895.4:c.1005C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs762774277

NCBI 1000 Genomes Browser:

rs762774277

Molecular consequence:

• NM_001079821.3:c.999C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127461.3:c.999C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127462.3:c.999C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243133.2:c.999C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004895.5:c.1005C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183395.3:c.999C>A - synonymous variant - [Sequence Ontology: SO:0001819]