ClinVar

NM_001370466.1(NOD2):c.255C>A (p.Ala85=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50699750 (on Assembly GRCh38)
• Chr16: 50733661 (on Assembly GRCh37)

Preferred name:

NM_001370466.1(NOD2):c.255C>A (p.Ala85=)

HGVS:

• NC_000016.10:g.50699750C>A
• NG_007508.1:g.7612C>A
• NM_001293557.2:c.255C>A
• NM_001370466.1:c.255C>AMANE SELECT
• NM_022162.3:c.336C>A
• NP_001280486.1:p.Ala85=
• NP_001357395.1:p.Ala85=
• NP_071445.1:p.Ala112=
• LRG_177:g.7612C>A
• NC_000016.9:g.50733661C>A
• NM_022162.2:c.336C>A
• NR_163434.1:n.320C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs770046355

NCBI 1000 Genomes Browser:

rs770046355

Molecular consequence:

• NR_163434.1:n.320C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293557.2:c.255C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370466.1:c.255C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022162.3:c.336C>A - synonymous variant - [Sequence Ontology: SO:0001819]