chr1:196673968:T>G Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,643,098-196,643,098 View the variant detail on this assembly version.
hg38 chr1:196,673,968-196,673,968

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.350+6T>G
NM_001014975.2:c.350+6T>G
Ensemble ENST00000359637.3:c.350+6T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 134370 OMIM
HGNC 4883 HGNC
Ensembl ENSG00000000971 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 2008-02-01 no assertion criteria provided basal laminar drusen germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 BASAL LAMINAR DRUSEN (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000186.4(CFH):c.350+6T>G AND Basal laminar drusen ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs387906550 dbSNP
Genome
hg38
Position
chr1:196,673,968-196,673,968
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser