ClinVar

NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)

Gene:

NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50723365 (on Assembly GRCh38)
• Chr16: 50757276 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)

HGVS:

• NC_000016.10:g.50723365G>A
• NG_007508.1:g.31227G>A
• NM_001293557.2:c.2782G>A
• NM_001370466.1:c.2782G>AMANE SELECT
• NM_022162.3:c.2863G>A
• NP_001280486.1:p.Val928Ile
• NP_001357395.1:p.Val928Ile
• NP_071445.1:p.Val955Ile
• LRG_177t1:c.2863G>A
• LRG_177:g.31227G>A
• NC_000016.9:g.50757276G>A
• NM_022162.1:c.2863G>A
• NM_022162.2:c.2863G>A
• NR_163434.1:n.2994G>A
• Q9HC29:p.Val955Ile

This HGVS expression did not pass validation

Protein change:

V928I

Links:

UniProtKB: Q9HC29#VAR_012704; dbSNP: rs5743291

NCBI 1000 Genomes Browser:

rs5743291

Molecular consequence:

• NM_001293557.2:c.2782G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.2782G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.2863G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.2994G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]