ClinVar

NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50710899 (on Assembly GRCh38)
• Chr16: 50744810 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.907C>T (p.Pro303Ser)

HGVS:

• NC_000016.10:g.50710899C>T
• NG_007508.1:g.18761C>T
• NM_001293557.2:c.907C>T
• NM_001370466.1:c.907C>TMANE SELECT
• NM_022162.3:c.988C>T
• NP_001280486.1:p.Pro303Ser
• NP_001357395.1:p.Pro303Ser
• NP_071445.1:p.Pro330Ser
• LRG_177:g.18761C>T
• NC_000016.9:g.50744810C>T
• NR_163434.1:n.972C>T

This HGVS expression did not pass validation

Protein change:

P303S

Links:

dbSNP: rs773132030

NCBI 1000 Genomes Browser:

rs773132030

Molecular consequence:

• NM_001293557.2:c.907C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370466.1:c.907C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022162.3:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_163434.1:n.972C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]