ClinVar

NM_001243133.2(NLRP3):c.2076G>A (p.Glu692=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 247425525 (on Assembly GRCh38)
• Chr1: 247588827 (on Assembly GRCh37)

Preferred name:

NM_001243133.2(NLRP3):c.2076G>A (p.Glu692=)

HGVS:

• NC_000001.11:g.247425525G>A
• NG_007509.2:g.14353G>A
• NM_001079821.3:c.2076G>A
• NM_001127461.3:c.2076G>A
• NM_001127462.3:c.2076G>A
• NM_001243133.2:c.2076G>AMANE SELECT
• NM_004895.5:c.2082G>A
• NM_183395.3:c.2076G>A
• NP_001073289.2:p.Glu692=
• NP_001120933.2:p.Glu692=
• NP_001120934.2:p.Glu692=
• NP_001230062.1:p.Glu692=
• NP_004886.3:p.Glu694=
• NP_004886.3:p.Glu694=
• NP_899632.2:p.Glu692=
• LRG_197t1:c.2082G>A
• LRG_197:g.14353G>A
• LRG_197p1:p.Glu694=
• NC_000001.10:g.247588827G>A
• NM_004895.4:c.2082G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001079821.3:c.2076G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127461.3:c.2076G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127462.3:c.2076G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243133.2:c.2076G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004895.5:c.2082G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_183395.3:c.2076G>A - synonymous variant - [Sequence Ontology: SO:0001819]