ClinVar

NM_001370466.1(NOD2):c.1541G>A (p.Arg514Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50711533 (on Assembly GRCh38)
• Chr16: 50745444 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.1541G>A (p.Arg514Gln)

HGVS:

• NC_000016.10:g.50711533G>A
• NG_007508.1:g.19395G>A
• NM_001293557.2:c.1541G>A
• NM_001370466.1:c.1541G>AMANE SELECT
• NM_022162.3:c.1622G>A
• NP_001280486.1:p.Arg514Gln
• NP_001357395.1:p.Arg514Gln
• NP_071445.1:p.Arg541Gln
• LRG_177:g.19395G>A
• NC_000016.9:g.50745444G>A
• NR_163434.1:n.1606G>A

This HGVS expression did not pass validation

Protein change:

R514Q

Links:

dbSNP: rs753857915

NCBI 1000 Genomes Browser:

rs753857915

Molecular consequence:

• NM_001293557.2:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.1541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.1622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.1606G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]