ClinVar

NM_178844.3(NLRC3):c.2757C>T (p.Ser919=)

Gene:

NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3548149 (on Assembly GRCh38)
• Chr16: 3598149 (on Assembly GRCh37)

Preferred name:

NM_178844.3(NLRC3):c.2757C>T (p.Ser919=)

HGVS:

• NC_000016.10:g.3548149G>A
• NG_033123.1:g.34243C>T
• NM_178844.4:c.2757C>TMANE SELECT
• NP_849172.2:p.Ser919=
• NC_000016.9:g.3598149G>A
• NR_075083.3:n.3377C>T
• NM_178844.2:c.2688+69C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199476286

NCBI 1000 Genomes Browser:

rs199476286

Molecular consequence:

• NR_075083.3:n.3377C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_178844.4:c.2757C>T - synonymous variant - [Sequence Ontology: SO:0001819]