ClinVar

NM_001276700.2(NLRP6):c.30-271C>G

Gene:

NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 279056 (on Assembly GRCh38)
• Chr11: 279056 (on Assembly GRCh37)

Preferred name:

NM_001276700.2(NLRP6):c.30-271C>G

HGVS:

• NC_000011.10:g.279056C>G
• NG_050573.1:g.5692C>G
• NM_001276700.2:c.30-271C>GMANE SELECT
• NM_138329.2:c.30-271C>G
• NC_000011.9:g.279056C>G
• NM_138329.1:c.30-271C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs199475792

NCBI 1000 Genomes Browser:

rs199475792

Molecular consequence:

• NM_001276700.2:c.30-271C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_138329.2:c.30-271C>G - intron variant - [Sequence Ontology: SO:0001627]