ClinVar

NM_001243133.2(NLRP3):c.819G>T (p.Leu273=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247424268 (on Assembly GRCh38)
• Chr1: 247587570 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.819G>T (p.Leu273=)

HGVS:

• NC_000001.11:g.247424268G>T
• NG_007509.2:g.13096G>T
• NG_157599.1:g.326G>T
• NM_001079821.3:c.819G>T
• NM_001127461.3:c.819G>T
• NM_001127462.3:c.819G>T
• NM_001243133.2:c.819G>TMANE SELECT
• NM_004895.5:c.825G>T
• NM_183395.3:c.819G>T
• NP_001073289.2:p.Leu273=
• NP_001120933.2:p.Leu273=
• NP_001120934.2:p.Leu273=
• NP_001230062.1:p.Leu273=
• NP_004886.3:p.Leu275=
• NP_004886.3:p.Leu275=
• NP_899632.2:p.Leu273=
• LRG_197t1:c.825G>T
• LRG_197:g.13096G>T
• LRG_197p1:p.Leu275=
• NC_000001.10:g.247587570G>T
• NM_004895.4:c.825G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001079821.3:c.819G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127461.3:c.819G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127462.3:c.819G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243133.2:c.819G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004895.5:c.825G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183395.3:c.819G>T - synonymous variant - [Sequence Ontology: SO:0001819]