ClinVar

NM_176822.4(NLRP14):c.609C>A (p.Gly203=)

Gene:

NLRP14:NLR family pyrin domain containing 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 7042635 (on Assembly GRCh38)
• Chr11: 7063866 (on Assembly GRCh37)

Preferred name:

NM_176822.4(NLRP14):c.609C>A (p.Gly203=)

HGVS:

• NC_000011.10:g.7042635C>A
• NG_046900.1:g.27190C>A
• NM_176822.4:c.609C>AMANE SELECT
• NP_789792.1:p.Gly203=
• NP_789792.1:p.Gly203=
• NC_000011.9:g.7063866C>A
• NM_176822.3:c.609C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs199475881

NCBI 1000 Genomes Browser:

rs199475881

Molecular consequence:

• NM_176822.4:c.609C>A - synonymous variant - [Sequence Ontology: SO:0001819]