DYNC2H1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DYNC2H1 (HGNC:2962) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dynein cytoplasmic 2 heavy chain 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DNCH2
Alias symbols
hdhc11, DHC2, DHC1b, DYH1B
%HI
29.66(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
11q22.3
Genomic Coordinates
GRCh37/hg19: chr11:102980155-103350591 NCBI Ensembl UCSC
GRCh38/hg38: chr11:103109426-103479863 NCBI Ensembl UCSC
MANE Select Transcript
NM_001377.3 ENST00000375735.7 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_001080463.2 ENST00000650373.2 (Read more about MANE Plus Clinical)
Function
May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13639
ClinGen Curation ID:
CCID:007043
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • asphyxiating thoracic dystrophy 3 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)