chr1:196913214:A>G Detail (hg38) (CFHR4)

Information

Genome

Assembly Position
hg19 chr1:196,882,344-196,882,344 View the variant detail on this assembly version.
hg38 chr1:196,913,214-196,913,214

HGVS

Type Transcript Protein
RefSeq NM_006684.4:c.439+292A>G
NM_001201550.2:c.1177+292A>G
NM_001201551.1:c.1177+292A>G
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 605337 OMIM
HGNC 16979 HGNC
Ensembl ENSG00000134365 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4313542 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-18 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 age related macular degeneration NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001201550.3(CFHR4):c.1180+292A>G AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7522952 dbSNP
Genome
hg38
Position
chr1:196,913,214-196,913,214
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser