ClinVar

NM_004408.4(DNM1):c.386-8C>T

Genes:

LOC113839516:Sharpr-MPRA regulatory region 8497 [Gene]
DNM1:dynamin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128219041 (on Assembly GRCh38)
• Chr9: 130981320 (on Assembly GRCh37)

Preferred name:

NM_004408.4(DNM1):c.386-8C>T

HGVS:

• NC_000009.12:g.128219041C>T
• NG_029726.1:g.20658C>T
• NG_063133.1:g.392C>T
• NM_001005336.3:c.386-8C>T
• NM_001288737.2:c.386-8C>T
• NM_001288738.2:c.386-8C>T
• NM_001288739.2:c.386-8C>T
• NM_004408.4:c.386-8C>TMANE SELECT
• NC_000009.11:g.130981320C>T
• NM_004408.2:c.386-8C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs764950748

NCBI 1000 Genomes Browser:

rs764950748

Molecular consequence:

• NM_001005336.3:c.386-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288737.2:c.386-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288738.2:c.386-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288739.2:c.386-8C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_004408.4:c.386-8C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1