ClinVar

NM_001370466.1(NOD2):c.1020C>G (p.Leu340=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50711012 (on Assembly GRCh38)
• Chr16: 50744923 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.1020C>G (p.Leu340=)

HGVS:

• NC_000016.10:g.50711012C>G
• NG_007508.1:g.18874C>G
• NM_001293557.2:c.1020C>G
• NM_001370466.1:c.1020C>GMANE SELECT
• NM_022162.3:c.1101C>G
• NP_001280486.1:p.Leu340=
• NP_001357395.1:p.Leu340=
• NP_071445.1:p.Leu367=
• LRG_177:g.18874C>G
• NC_000016.9:g.50744923C>G
• NR_163434.1:n.1085C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1481032704

NCBI 1000 Genomes Browser:

rs1481032704

Molecular consequence:

• NR_163434.1:n.1085C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293557.2:c.1020C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370466.1:c.1020C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022162.3:c.1101C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1