ClinVar

NM_006092.4(NOD1):c.796G>A (p.Glu266Lys)

Gene:

NOD1:nucleotide binding oligomerization domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.3

Genomic location:

• Chr7: 30452621 (on Assembly GRCh38)
• Chr7: 30492237 (on Assembly GRCh37)

Preferred name:

NM_006092.4(NOD1):c.796G>A (p.Glu266Lys)

HGVS:

• NC_000007.14:g.30452621C>T
• NG_013025.1:g.31157G>A
• NM_001354849.2:c.796G>A
• NM_006092.4:c.796G>AMANE SELECT
• NP_001341778.1:p.Glu266Lys
• NP_006083.1:p.Glu266Lys
• NC_000007.13:g.30492237C>T
• NM_006092.2:c.796G>A
• NR_149002.2:n.1326G>A

This HGVS expression did not pass validation

Protein change:

E266K

Links:

dbSNP: rs2075820

NCBI 1000 Genomes Browser:

rs2075820

Molecular consequence:

• NM_001354849.2:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006092.4:c.796G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_149002.2:n.1326G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]