ClinVar

NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50711237 (on Assembly GRCh38)
• Chr16: 50745148 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)

HGVS:

• NC_000016.10:g.50711237C>T
• NG_007508.1:g.19099C>T
• NM_001293557.2:c.1245C>T
• NM_001370466.1:c.1245C>TMANE SELECT
• NM_022162.3:c.1326C>T
• NP_001280486.1:p.Phe415=
• NP_001357395.1:p.Phe415=
• NP_071445.1:p.Phe442=
• LRG_177:g.19099C>T
• NC_000016.9:g.50745148C>T
• NM_022162.2:c.1326C>T
• NR_163434.1:n.1310C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs151315883

NCBI 1000 Genomes Browser:

rs151315883

Molecular consequence:

• NR_163434.1:n.1310C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293557.2:c.1245C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370466.1:c.1245C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022162.3:c.1326C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1