ClinVar

NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)

Genes:

CYLD-AS1:CYLD antisense RNA 1 [Gene - HGNC]
NOD2:nucleotide binding oligomerization domain containing 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50729867 - 50729868 (on Assembly GRCh38)
• Chr16: 50763778 - 50763779 (on Assembly GRCh37)

Preferred name:

NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)

HGVS:

• NC_000016.10:g.50729870dup
• NC_000016.9:g.50763781dupC
• NG_007508.1:g.37732dup
• NM_001293557.2:c.2938dup
• NM_001370466.1:c.2938dupMANE SELECT
• NM_022162.3:c.3019dup
• NP_001280486.1:p.Leu980fs
• NP_001357395.1:p.Leu980fs
• NP_071445.1:p.Leu1007fs
• LRG_177t1:c.3019dup
• LRG_177:g.37732dup
• NC_000016.9:g.50763778_50763779insC
• NC_000016.9:g.50763781dup
• NC_000016.9:g.50763781dup
• NM_001370466.1:c.2938dup
• NM_022162.1:c.3019dupC
• NM_022162.2:c.3019dupC
• NR_163434.1:n.3150dup

This HGVS expression did not pass validation

Protein change:

L1007fs

Links:

OMIM: 605956.0001; OMIM: 605956.0012; dbSNP: rs2066847

NCBI 1000 Genomes Browser:

rs2066847