chr19:18979619:>G Detail (hg19) (GDF1, CERS1)

Information

Genome

Assembly Position
hg19 chr19:18,979,619-18,979,619
hg38 chr19:18,868,810-18,868,810 

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000623882.4:c.*1174_*1175insC
Type Transcript Protein
RefSeq
Ensemble ENST00000247005.8:c.905_906insC ENST00000247005.8:p.Val304ArgfsTer48
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 606919 OMIM
HGNC 14253 HGNC
Ensembl ENSG00000223802 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 602880 OMIM
HGNC 4214 HGNC
Ensembl ENSG00000130283 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 criteria provided, single submitter right atrial isomerism germline Detail
Pathogenic Likely pathogenic 2023-09-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001492.6(GDF1):c.909dup (p.Val304fs) AND Right atrial isomerism ClinVar Detail
NM_001492.6(GDF1):c.909dup (p.Val304fs) AND not provided ClinVar 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
rs606231383 dbSNP
Genome
hg19
Position
chr19:18,979,619-18,979,619
Variant Type
snv
Reference Allele
-
Alternative Allele
G
Genome browser