chr1:196709842:G>A Detail (hg19) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,709,842-196,709,842
hg38 chr1:196,740,712-196,740,712 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.2876G>A NP_000177.2:p.Cys959Tyr
Ensemble ENST00000695976.1:c.2687G>A ENST00000695976.1:p.Cys896Tyr
ENST00000367429.9:c.2876G>A ENST00000367429.9:p.Cys959Tyr
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 COSM5949637 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-06-11 no assertion criteria provided Factor H deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 Complement Factor H Deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000186.4(CFH):c.2876G>A (p.Cys959Tyr) AND Factor H deficiency ClinVar Detail
NA 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
rs121913053 dbSNP
Genome
hg19
Position
chr1:196,709,842-196,709,842
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser