ClinVar

NM_176810.2(NLRP13):c.2958G>A (p.Gly986=)

Gene:

NLRP13:NLR family pyrin domain containing 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.43

Genomic location:

• Chr19: 55896119 (on Assembly GRCh38)
• Chr19: 56407485 (on Assembly GRCh37)

Preferred name:

NM_176810.2(NLRP13):c.2958G>A (p.Gly986=)

HGVS:

• NC_000019.10:g.55896119C>T
• NG_053013.1:g.41218G>A
• NM_001321057.1:c.2958G>A
• NM_176810.2:c.2958G>AMANE SELECT
• NP_001307986.1:p.Gly986=
• NP_789780.2:p.Gly986=
• NC_000019.9:g.56407485C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199475878

NCBI 1000 Genomes Browser:

rs199475878

Molecular consequence:

• NM_001321057.1:c.2958G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_176810.2:c.2958G>A - synonymous variant - [Sequence Ontology: SO:0001819]