ClinVar

NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50710976 (on Assembly GRCh38)
• Chr16: 50744887 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter)

HGVS:

• NC_000016.10:g.50710976G>A
• NG_007508.1:g.18838G>A
• NM_001293557.2:c.984G>A
• NM_001370466.1:c.984G>AMANE SELECT
• NM_022162.3:c.1065G>A
• NP_001280486.1:p.Trp328Ter
• NP_001357395.1:p.Trp328Ter
• NP_071445.1:p.Trp355Ter
• LRG_177t1:c.1065G>A
• LRG_177:g.18838G>A
• NC_000016.9:g.50744887G>A
• NM_022162.1:c.1065G>A
• NR_163434.1:n.1049G>A

This HGVS expression did not pass validation

Protein change:

W328*

Links:

dbSNP: rs104895488

NCBI 1000 Genomes Browser:

rs104895488

Molecular consequence:

• NR_163434.1:n.1049G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293557.2:c.984G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001370466.1:c.984G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_022162.3:c.1065G>A - nonsense - [Sequence Ontology: SO:0001587]