ClinVar

NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50711169 (on Assembly GRCh38)
• Chr16: 50745080 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.1177C>T (p.Arg393Cys)

HGVS:

• NC_000016.10:g.50711169C>T
• NG_007508.1:g.19031C>T
• NM_001293557.2:c.1177C>T
• NM_001370466.1:c.1177C>TMANE SELECT
• NM_022162.3:c.1258C>T
• NP_001280486.1:p.Arg393Cys
• NP_001357395.1:p.Arg393Cys
• NP_071445.1:p.Arg420Cys
• LRG_177t1:c.1258C>T
• LRG_177:g.19031C>T
• NC_000016.9:g.50745080C>T
• NM_022162.1:c.1258C>T
• NR_163434.1:n.1242C>T

This HGVS expression did not pass validation

Protein change:

R393C

Links:

dbSNP: rs367883043

NCBI 1000 Genomes Browser:

rs367883043

Molecular consequence:

• NM_001293557.2:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.1177C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.1258C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.1242C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]