chr1:186178506:A>G Detail (hg38) (HMCN1)

Information

Genome

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

HGVS

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
Show details
Links
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 tgv303177824 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

DescrptionSourceLinks
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
hg38
Position
chr1:186,178,506-186,178,506
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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