H19
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
H19 (HGNC:4713) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
H19 imprinted maternally expressed transcript
Gene type
non-coding RNA
Locus type
RNA, long non-coding
Previous symbols
No previous names found
Alias symbols
D11S813E, ASM, ASM1, NCRNA00008, LINC00008, MIR675HG
%HI
0(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
Cytoband
11p15.5
Genomic Coordinates
GRCh37/hg19: chr11:2016406-2022696 NCBI Ensembl UCSC
GRCh38/hg38: chr11:1995176-2001466 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7508
ClinGen Curation ID:
CCID:007269
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Related Links:
Last Evaluated:
03/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
PMID 19209620 - Schonherr (2008): 2 Russell-Silver patients with in-frame 3 bp deletions and one Russell-Silver patient with a 39 bp duplication were reported. It is unclear if these small sequence changes are related to the patients phenotypes. Not enough evidence to count toward the loss of function score.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
http://www.ncbi.nlm.nih.gov/books/NBK1324, http://www.ncbi.nlm.nih.gov/books/NBK1394. Maternally derived duplications including 11p15.5 result in Russell-Silver syndrome. Paternally derived duplications including 11p15.5 result in Beckwith-Wiedemann syndrome.

Genomic View

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