ClinVar

NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247429606 (on Assembly GRCh38)
• Chr1: 247592908 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.2172T>A (p.Thr724=)

HGVS:

• NC_000001.11:g.247429606T>A
• NG_007509.2:g.18434T>A
• NM_001079821.3:c.2172T>A
• NM_001127461.3:c.2172T>A
• NM_001127462.3:c.2150+4007T>A
• NM_001243133.2:c.2172T>AMANE SELECT
• NM_004895.5:c.2178T>A
• NM_183395.3:c.2150+4007T>A
• NP_001073289.2:p.Thr724=
• NP_001120933.2:p.Thr724=
• NP_001230062.1:p.Thr724=
• NP_004886.3:p.Thr726=
• NP_004886.3:p.Thr726=
• LRG_197t1:c.2178T>A
• LRG_197:g.18434T>A
• LRG_197p1:p.Thr726=
• NC_000001.10:g.247592908T>A
• NM_004895.4:c.2178T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201102829

NCBI 1000 Genomes Browser:

rs201102829

Molecular consequence:

• NM_001127462.3:c.2150+4007T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_183395.3:c.2150+4007T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001079821.3:c.2172T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127461.3:c.2172T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243133.2:c.2172T>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004895.5:c.2178T>A - synonymous variant - [Sequence Ontology: SO:0001819]