ClinVar

NM_017852.5(NLRP2):c.325+129G>A

Gene:

NLRP2:NLR family pyrin domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

• Chr19: 54974673 (on Assembly GRCh38)
• Chr19: 55486041 (on Assembly GRCh37)

Preferred name:

NM_017852.5(NLRP2):c.325+129G>A

HGVS:

• NC_000019.10:g.54974673G>A
• NG_052633.1:g.26544G>A
• NM_001174081.3:c.325+129G>A
• NM_001174082.3:c.325+129G>A
• NM_001174083.2:c.256+129G>A
• NM_001348003.2:c.325+129G>A
• NM_017852.5:c.325+129G>AMANE SELECT
• NC_000019.9:g.55486041G>A
• NM_001174081.1:c.325+129G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs199475711

NCBI 1000 Genomes Browser:

rs199475711

Molecular consequence:

• NM_001174081.3:c.325+129G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174082.3:c.325+129G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001174083.2:c.256+129G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001348003.2:c.325+129G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_017852.5:c.325+129G>A - intron variant - [Sequence Ontology: SO:0001627]