chr17:79892230:C>T Detail (hg19) (PYCR1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:79,892,230-79,892,230
hg38	chr17:81,934,354-81,934,354 View the variant detail on this assembly version.

HGVS

PYCR1

Type	Transcript	Protein
RefSeq	NM_006907.3:c.769G>A	NP_008838.2:p.Ala257Thr
	NM_153824.2:c.769G>A	NP_722546.1:p.Ala257Thr
	NM_001282280.1:c.769G>A	NP_001269209.1:p.Ala257Thr
	NM_001282279.1:c.676G>A	NP_001269208.1:p.Ala226Thr
	NM_001330523.1:c.633+299G>A
	NM_001282281.1:c.850G>A	NP_001269210.1:p.Ala284Thr
Ensemble	ENST00000337943.9:c.769G>A	ENST00000337943.9:p.Ala257Thr
	ENST00000619204.4:c.769G>A	ENST00000619204.4:p.Ala257Thr
	ENST00000403172.8:c.676G>A	ENST00000403172.8:p.Ala226Thr
	ENST00000577756.5:c.633+299G>A
	ENST00000329875.13:c.769G>A	ENST00000329875.13:p.Ala257Thr
	ENST00000629768.2:c.633+299G>A
	ENST00000402252.6:c.850G>A	ENST00000402252.6:p.Ala284Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

PYCR1

Type	Database	ID	Link
Gene	MIM	179035	OMIM
	HGNC	9721	HGNC
	Ensembl	ENSG00000183010	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2009-09-01	no assertion criteria provided	PYCR1-related de Barsy syndrome	germline	Detail
Uncertain significance	2023-10-13	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2018-01-03	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely pathogenic		no assertion criteria provided	Wiedemann-Rautenstrauch-like progeroid syndrome	inherited	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	NA	CLINVAR		Detail
0.360	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	Mutations in PYCR1 cause cutis laxa with progeroid features.	UNIPROT	19648921	Detail

Annotation

Annotations

Descrption	Source	Links
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) AND PYCR1-related de Barsy syndrome	ClinVar	Detail
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) AND not provided	ClinVar	Detail
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) AND Inborn genetic diseases	ClinVar	Detail
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) AND Wiedemann-Rautenstrauch-like progeroid syndrome	ClinVar	Detail
NA	DisGeNET	Detail
Mutations in PYCR1 cause cutis laxa with progeroid features.	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: rs281875318 dbSNP
Genome: hg19
Position: chr17:79,892,230-79,892,230
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 7992
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.2512512512512512E-4
Chromosome Counts in All Race (ExAC): 109454
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.568129077055201E-5

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