ClinVar

NM_002491.3(NDUFB3):c.141-5del

Gene:

NDUFB3:NADH:ubiquinone oxidoreductase subunit B3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q33.1

Genomic location:

• Chr2: 201085444 (on Assembly GRCh38)
• Chr2: 201950167 (on Assembly GRCh37)

Preferred name:

NM_002491.3(NDUFB3):c.141-5del

HGVS:

• NC_000002.12:g.201085454del
• NG_032156.1:g.18716del
• NM_001257102.2:c.141-5del
• NM_002491.3:c.141-5delMANE SELECT
• NC_000002.11:g.201950177del
• NM_002491.2:c.141-15delT
• NM_002491.2:c.141-15delT

This HGVS expression did not pass validation

Links:

dbSNP: rs534968379

NCBI 1000 Genomes Browser:

rs534968379

Molecular consequence:

• NM_001257102.2:c.141-5del - intron variant - [Sequence Ontology: SO:0001627]
• NM_002491.3:c.141-5del - intron variant - [Sequence Ontology: SO:0001627]