chr1:186147638:A>G Detail (hg19) (HMCN1)

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

Genome

Assembly	Position
hg19	chr1:186,147,638-186,147,638
hg38	chr1:186,178,506-186,178,506 View the variant detail on this assembly version.

HGVS

HMCN1

Type	Transcript	Protein
RefSeq	NM_031935.2:c.16034A>G	NP_114141.2:p.Gln5345Arg
Ensemble	ENST00000271588.9:c.16034A>G	ENST00000271588.9:p.Gln5345Arg

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
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Links

HMCN1

Type	Database	ID	Link
Gene	MIM	608548	OMIM
	HGNC	19194	HGNC
	Ensembl	ENSG00000143341	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
risk factor	2007-04-01	no assertion criteria provided	MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	germline	Detail
Uncertain significance	2017-04-27	criteria provided, single submitter	age related macular degeneration 1	germline	Detail
Likely benign	2024-01-02	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.016	age related macular degeneration	The A16,263G mutation in the HEMICENTIN-1 gene produces a non-conservative subst...	BeFree	15467524	Detail
0.016	age related macular degeneration	A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was n...	BeFree	14968411	Detail
0.016	age related macular degeneration	This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345...	BeFree	17057786	Detail

Annotation

Annotations

Descrption	Source	Links
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) AND MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILIT...	ClinVar	Detail
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) AND Age related macular degeneration 1	ClinVar	Detail
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) AND not provided	ClinVar	Detail
The A16,263G mutation in the HEMICENTIN-1 gene produces a non-conservative substitution of arginine ...	DisGeNET	Detail
A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 a...	DisGeNET	Detail
This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair...	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: rs121434382 dbSNP
Genome: hg19
Position: chr1:186,147,638-186,147,638
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121234
Allele Counts in All Race (ExAC): 103
Heterozygous Counts in All Race (ExAC): 103
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.495966478050712E-4

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