SH3TC2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SH3TC2 (HGNC:29427) HGNC Entrez Ensembl OMIM UCSC GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SH3 domain and tetratricopeptide repeats 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA1985, CMT4C
- %HI
- 47.72(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.8(Read more about gnomAD LOEUF score)
- Cytoband
- 5q32
- Genomic Coordinates
-
GRCh37/hg19: chr5:148361713-148442625 NCBI Ensembl UCSC GRCh38/hg38: chr5:148982150-149063062 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024577.4 ENST00000515425.6 (Read more about MANE Select)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3047
ClinGen Curation ID:
CCID:007839
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Charcot-Marie-Tooth disease type 4C Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)