ClinVar

NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50716599 (on Assembly GRCh38)
• Chr16: 50750510 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys)

HGVS:

• NC_000016.10:g.50716599C>G
• NG_007508.1:g.24461C>G
• NM_001293557.2:c.2394C>G
• NM_001370466.1:c.2394C>GMANE SELECT
• NM_022162.3:c.2475C>G
• NP_001280486.1:p.Asn798Lys
• NP_001357395.1:p.Asn798Lys
• NP_071445.1:p.Asn825Lys
• LRG_177t1:c.2475C>G
• LRG_177:g.24461C>G
• NC_000016.9:g.50750510C>G
• NM_022162.1:c.2475C>G
• NR_163434.1:n.2606C>G
• Q9HC29:p.Asn825Lys

This HGVS expression did not pass validation

Protein change:

N798K

Links:

UniProtKB: Q9HC29#VAR_073247; dbSNP: rs104895485

NCBI 1000 Genomes Browser:

rs104895485

Molecular consequence:

• NM_001293557.2:c.2394C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.2394C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.2475C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.2606C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]