ClinVar

NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50699883 (on Assembly GRCh38)
• Chr16: 50733794 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg)

HGVS:

• NC_000016.10:g.50699883T>C
• NG_007508.1:g.7745T>C
• NM_001293557.2:c.388T>C
• NM_001370466.1:c.388T>CMANE SELECT
• NM_022162.3:c.469T>C
• NP_001280486.1:p.Trp130Arg
• NP_001357395.1:p.Trp130Arg
• NP_071445.1:p.Trp157Arg
• LRG_177t1:c.469T>C
• LRG_177:g.7745T>C
• NC_000016.9:g.50733794T>C
• NM_022162.1:c.469T>C
• NR_163434.1:n.453T>C
• Q9HC29:p.Trp157Arg

This HGVS expression did not pass validation

Protein change:

W130R

Links:

UniProtKB: Q9HC29#VAR_012666; dbSNP: rs104895420

NCBI 1000 Genomes Browser:

rs104895420

Molecular consequence:

• NM_001293557.2:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.388T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.469T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.453T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]