chr17:42562147:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr17:40,714,165-40,718,295 
hg38 chr17:42,562,147-42,566,277

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 cystic fibrosis NA BeFree Detail
<0.001 Endocrine System Diseases NA BeFree Detail
<0.001 Osteitis Fibrosa Disseminata NA BeFree Detail
<0.001 obesity As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... BeFree 24780838 Detail
<0.001 hypothyroidism Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (P... BeFree 25591844 Detail
<0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
<0.001 neuroblastoma NA BeFree Detail
<0.001 ovarian carcinoma Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS... BeFree 25066213 Detail
<0.001 Pancreatic Cyst Among screened subjects, mutations in KRAS (but not guanine nucleotide-binding p... BeFree 25481712 Detail
<0.001 pituitary adenoma Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) ... BeFree 25291362 Detail
0.001 pseudohypoparathyroidism NA BeFree Detail
<0.001 pseudopseudohypoparathyroidism NA BeFree Detail
<0.001 Precocious Puberty NA BeFree Detail
<0.001 Vitamin D Deficiency NA BeFree Detail
<0.001 Hyperphosphatemia (disorder) Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (P... BeFree 25591844 Detail
<0.001 Thyroid Gland Follicular Adenoma NA BeFree Detail
<0.001 uveal melanoma NA BeFree Detail
<0.001 Memory impairment NA BeFree Detail
<0.001 Extrapyramidal sign NA BeFree Detail
<0.001 McCune-Albright syndrome NA BeFree Detail
0.001 fibrous dysplasia NA BeFree Detail
<0.001 Osteodystrophy NA BeFree Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 Pseudohypoparathyroidism and pseudopseudohypoparathyroidism NA BeFree Detail
<0.001 Adrenal hypertrophy or hyperplasia NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 Epithelial ovarian cancer Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS... BeFree 25066213 Detail
<0.001 Central neuroblastoma NA BeFree Detail
<0.001 Pancreatic intraepithelial neoplasia We determined the prevalence of mutations in KRAS and guanine nucleotide-binding... BeFree 25481712 Detail
<0.001 Adrenal hyperplasia NA BeFree Detail
<0.001 Albright's hereditary osteodystrophy NA BeFree Detail
<0.001 Neurodegeneration with brain iron accumulation (NBIA) Mutations in PANK2 and CoASY, both implicated in CoA biosynthesis that acts as a... BeFree 25668476 Detail
0.002 Pseudohypoparathyroidism, Type Ia NA BeFree Detail
<0.001 congenital adrenal hyperplasia NA BeFree Detail
0.002 Malignant neoplasm of urinary bladder NA GAD Detail
<0.001 Bone Diseases NA BeFree Detail
0.003 Malignant neoplasm of breast NA BeFree,GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... DisGeNET Detail
Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted si... DisGeNET Detail
Among screened subjects, mutations in KRAS (but not guanine nucleotide-binding protein α-stimulating... DisGeNET Detail
Mutation analysis of inhibitory guanine nucleotide binding protein alpha (GNAI) loci in young and fa... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted si... DisGeNET Detail
NA DisGeNET Detail
We determined the prevalence of mutations in KRAS and guanine nucleotide-binding protein α-stimulati... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in PANK2 and CoASY, both implicated in CoA biosynthesis that acts as a fatty acyl carrier,... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386563534 dbSNP
Genome
hg38
Position
chr17:42,562,147-42,566,277
Variant Type
snv
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