ClinVar

NM_022162.2(NOD2):c.241C>G (p.Leu81Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50699655 (on Assembly GRCh38)
• Chr16: 50733566 (on Assembly GRCh37)

Preferred name:

NM_022162.2(NOD2):c.241C>G (p.Leu81Val)

Other names:

NOD2

HGVS:

• NC_000016.10:g.50699655C>G
• NG_007508.1:g.7517C>G
• NM_001293557.2:c.160C>G
• NM_001370466.1:c.160C>GMANE SELECT
• NM_022162.3:c.241C>G
• NP_001280486.1:p.Leu54Val
• NP_001357395.1:p.Leu54Val
• NP_071445.1:p.Leu81Val
• LRG_177:g.7517C>G
• NC_000016.9:g.50733566C>G
• NM_022162.2:c.241C>G
• NR_163434.1:n.225C>G

This HGVS expression did not pass validation

Protein change:

L54V

Links:

dbSNP: rs34936594

NCBI 1000 Genomes Browser:

rs34936594

Molecular consequence:

• NM_001293557.2:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.160C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.241C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.225C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]