ClinVar

NM_001370466.1(NOD2):c.*397A>C

Genes:

CYLD-AS1:CYLD antisense RNA 1 [Gene - HGNC]
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50732216 (on Assembly GRCh38)
• Chr16: 50766127 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.*397A>C

HGVS:

• NC_000016.10:g.50732216A>C
• NG_007508.1:g.40078A>C
• NM_001293557.2:c.*397A>C
• NM_001370466.1:c.*397A>CMANE SELECT
• NM_022162.3:c.*397A>C
• LRG_177t1:c.*397A>C
• LRG_177:g.40078A>C
• NC_000016.9:g.50766127A>C
• NM_022162.1:c.*397A>C
• NR_163434.1:n.3651A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs3135499

NCBI 1000 Genomes Browser:

rs3135499

Molecular consequence:

• NM_001293557.2:c.*397A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370466.1:c.*397A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_022162.3:c.*397A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_163434.1:n.3651A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]