ClinVar

NM_018995.3(MOV10L1):c.743+5G>A

Gene:

MOV10L1:Mov10 like RNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50108849 (on Assembly GRCh38)
• Chr22: 50547278 (on Assembly GRCh37)

Preferred name:

NM_018995.3(MOV10L1):c.743+5G>A

HGVS:

• NC_000022.11:g.50108849G>A
• NM_001164104.2:c.743+5G>A
• NM_001164105.2:c.683+5G>A
• NM_018995.3:c.743+5G>AMANE SELECT
• NC_000022.10:g.50547278G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs367878826

NCBI 1000 Genomes Browser:

rs367878826

Molecular consequence:

• NM_001164104.2:c.743+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164105.2:c.683+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018995.3:c.743+5G>A - intron variant - [Sequence Ontology: SO:0001627]