ClinVar

NM_001370466.1(NOD2):c.1368C>T (p.Cys456=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50711360 (on Assembly GRCh38)
• Chr16: 50745271 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.1368C>T (p.Cys456=)

HGVS:

• NC_000016.10:g.50711360C>T
• NG_007508.1:g.19222C>T
• NM_001293557.2:c.1368C>T
• NM_001370466.1:c.1368C>TMANE SELECT
• NM_022162.3:c.1449C>T
• NP_001280486.1:p.Cys456=
• NP_001357395.1:p.Cys456=
• NP_071445.1:p.Cys483=
• LRG_177:g.19222C>T
• NC_000016.9:g.50745271C>T
• NR_163434.1:n.1433C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1964487483

NCBI 1000 Genomes Browser:

rs1964487483

Molecular consequence:

• NR_163434.1:n.1433C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293557.2:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370466.1:c.1368C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022162.3:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]