ClinVar

NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247425567 (on Assembly GRCh38)
• Chr1: 247588869 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)

Other names:

p.L708L:CTC>CTT

HGVS:

• NC_000001.11:g.247425567C>T
• NG_007509.2:g.14395C>T
• NM_001079821.3:c.2118C>T
• NM_001127461.3:c.2118C>T
• NM_001127462.3:c.2118C>T
• NM_001243133.2:c.2118C>TMANE SELECT
• NM_004895.5:c.2124C>T
• NM_183395.3:c.2118C>T
• NP_001073289.2:p.Leu706=
• NP_001120933.2:p.Leu706=
• NP_001120934.2:p.Leu706=
• NP_001230062.1:p.Leu706=
• NP_004886.3:p.Leu708=
• NP_004886.3:p.Leu708=
• NP_899632.2:p.Leu706=
• LRG_197t1:c.2124C>T
• LRG_197:g.14395C>T
• LRG_197p1:p.Leu708=
• NC_000001.10:g.247588869C>T
• NM_004895.4:c.2124C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs149493236

NCBI 1000 Genomes Browser:

rs149493236

Molecular consequence:

• NM_001079821.3:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127461.3:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127462.3:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243133.2:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004895.5:c.2124C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183395.3:c.2118C>T - synonymous variant - [Sequence Ontology: SO:0001819]