chr1:196713905:C>T Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,683,035-196,683,035 View the variant detail on this assembly version.
hg38 chr1:196,713,905-196,713,905

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.1507C>T NP_000177.2:p.Pro503Ser
Ensemble ENST00000367429.9:c.1507C>T ENST00000367429.9:p.Pro503Ser
ENST00000695969.1:c.1507C>T ENST00000695969.1:p.Pro503Ser
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
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 tgv303634556 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
0.440 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs570523689 dbSNP
Genome
hg38
Position
chr1:196,713,905-196,713,905
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser