chr1:196978009:C>T Detail (hg38) (CFHR5)

Information

Genome

Assembly Position
hg19 chr1:196,947,139-196,947,139 View the variant detail on this assembly version.
hg38 chr1:196,978,009-196,978,009

HGVS

Type Transcript Protein
RefSeq NM_030787.3:c.58+287C>T
Ensemble ENST00000256785.5:c.58+287C>T
ENST00000699466.1:c.-198+2895C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 608593 OMIM
HGNC 24668 HGNC
Ensembl ENSG00000134389 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv85631783 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 age related macular degeneration NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NM_030787.4(CFHR5):c.58+287C>T AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12731209 dbSNP
Genome
hg38
Position
chr1:196,978,009-196,978,009
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser