ClinVar

NM_001370466.1(NOD2):c.276G>T (p.Leu92=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50699771 (on Assembly GRCh38)
• Chr16: 50733682 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.276G>T (p.Leu92=)

HGVS:

• NC_000016.10:g.50699771G>T
• NG_007508.1:g.7633G>T
• NM_001293557.2:c.276G>T
• NM_001370466.1:c.276G>TMANE SELECT
• NM_022162.3:c.357G>T
• NP_001280486.1:p.Leu92=
• NP_001357395.1:p.Leu92=
• NP_071445.1:p.Leu119=
• LRG_177t1:c.357G>T
• LRG_177:g.7633G>T
• NC_000016.9:g.50733682G>T
• NM_022162.1:c.357G>T
• NR_163434.1:n.341G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs672601267

NCBI 1000 Genomes Browser:

rs672601267

Molecular consequence:

• NR_163434.1:n.341G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293557.2:c.276G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370466.1:c.276G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022162.3:c.357G>T - synonymous variant - [Sequence Ontology: SO:0001819]