chr19:45352235:G>A Detail (hg38) (ERCC2)

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

Information

Genome

Assembly	Position
hg19	chr19:45,855,493-45,855,493 View the variant detail on this assembly version.
hg38	chr19:45,352,235-45,352,235

HGVS

ERCC2

Type	Transcript	Protein
RefSeq	NM_000400.3:c.2164C>T	NP_000391.1:p.Arg722Trp
Ensemble	ENST00000391944.8:c.2164C>T	ENST00000391944.8:p.Arg722Trp
	ENST00000391945.10:c.2164C>T	ENST00000391945.10:p.Arg722Trp
	ENST00000684407.1:c.2041C>T	ENST00000684407.1:p.Arg681Trp

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	Pathogenic
Review star
Show details

Links

ERCC2

Type	Database	ID	Link
Gene	MIM	126340	OMIM
	HGNC	3434	HGNC
	Ensembl	ENSG00000104884	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv62283184	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1994-06-01	no assertion criteria provided	Trichothiodystrophy 1, photosensitive	germline	Detail
Pathogenic	2023-10-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-05-30	criteria provided, multiple submitters, no conflicts	cerebrooculofacioskeletal syndrome 2	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Xeroderma pigmentosum, group D,Trichothiodystrophy 1, photosensitive,cerebrooculofacioskeletal syndrome 2	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Xeroderma pigmentosum, group D,Trichothiodystrophy 1, photosensitive,cerebrooculofacioskeletal syndrome 2	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Xeroderma pigmentosum, group D,Trichothiodystrophy 1, photosensitive,cerebrooculofacioskeletal syndrome 2	unknown	Detail
Pathogenic	2020-05-28	criteria provided, single submitter	trichothiodystrophy	germline	Detail
Pathogenic	2021-03-05	criteria provided, single submitter	Hypotrichosis simplex	germline	Detail
Pathogenic	2023-02-09	criteria provided, multiple submitters, no conflicts	ERCC2-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	photosensitive trichothiodystrophy	NA	CLINVAR		Detail
0.138	Trichothiodystrophy Syndromes	Patient TTD24PV was compound heterozygous for a typical TTD allele (c.2164C>T...	BeFree	19085937	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND Trichothiodystrophy 1, photosensitive	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND not provided	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND Cerebrooculofacioskeletal syndrome 2	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND multiple conditions	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND multiple conditions	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND multiple conditions	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND Trichothiodystrophy	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND Hypotrichosis simplex	ClinVar	Detail
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) AND ERCC2-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
Patient TTD24PV was compound heterozygous for a typical TTD allele (c.2164C>T, p.Arg722Trp) and f...	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: rs121913026 dbSNP
Genome: hg38
Position: chr19:45,352,235-45,352,235
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8610
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1614401858304297E-4
Chromosome Counts in All Race (ExAC): 119982
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.333833408344585E-5

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