chr19:48165573:G>C Detail (hg38) (LIG1)

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

Genome

Assembly	Position
hg19	chr19:48,668,830-48,668,830 View the variant detail on this assembly version.
hg38	chr19:48,165,573-48,165,573

HGVS

LIG1

Type	Transcript	Protein
RefSeq	NM_000234.2:c.-7C>G
	NM_001320970.1:c.-7C>G
	NM_001289063.1:c.-7C>G
	NM_001320971.1:c.-7C>G
	NR_135498.1:c.-7C>G
	NR_135499.1:c.-7C>G
	NR_135500.1:c.-7C>G
	NR_135501.1:c.-7C>G
Ensemble	ENST00000263274.12:c.-7C>G
	ENST00000427526.6:c.-7C>G
	ENST00000596549.6:c.-7C>G
	ENST00000699866.1:c.-7C>G
	ENST00000699868.1:c.-7C>G
	ENST00000699871.1:c.-7C>G
	ENST00000699874.1:c.-7C>G
	ENST00000699875.1:c.-7C>G
	ENST00000699877.1:c.-7C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

LIG1

Type	Database	ID	Link
Gene	MIM	126391	OMIM
	HGNC	6598	HGNC
	Ensembl	ENSG00000105486	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.030	Malignant neoplasm of lung	Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso...	BeFree	18709642	Detail
0.002	Carcinoma of lung	Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso...	BeFree	18709642	Detail
0.001	Carcinoma of lung	Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso...	BeFree	18709642	Detail
0.001	Malignant neoplasm of lung	Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was asso...	BeFree	18709642	Detail
<0.001	Malignant neoplasm of lung	For lung cancer, when compared to the most common haplotype (rs20581-rs20580-rs2...	BeFree	18059021	Detail
<0.001	Carcinoma of lung	For lung cancer, when compared to the most common haplotype (rs20581-rs20580-rs2...	BeFree	18059021	Detail

Annotation

Annotations

Descrption	Source	Links
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase...	DisGeNET	Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase...	DisGeNET	Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase...	DisGeNET	Detail
Among African Americans, His/His genotype of ERCC5 His1104Asp (rs17655) was associated with increase...	DisGeNET	Detail
For lung cancer, when compared to the most common haplotype (rs20581-rs20580-rs20579-rs439132 = T-C-...	DisGeNET	Detail
For lung cancer, when compared to the most common haplotype (rs20581-rs20580-rs20579-rs439132 = T-C-...	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: rs20579 dbSNP
Genome: hg38
Position: chr19:48,165,573-48,165,573
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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