chr9:91726603:GCCGC> Detail (hg38) (ROR2)

Information

Genome

Assembly Position
hg19 chr9:94,488,885-94,488,889 
hg38 chr9:91,726,603-91,726,607

HGVS

Type Transcript Protein
RefSeq NM_001318204.1:c.1320_1324delGCGGC NP_001305133.1:p.Arg441ThrfsTer16
NM_004560.3:c.1320_1324delGCGGC NP_004551.2:p.Arg441ThrfsTer16
Ensemble ENST00000375708.4:c.1320_1324delGCGGC ENST00000375708.4:p.Arg441ThrfsTer16
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 602337 OMIM
HGNC 10257 HGNC
Ensembl ENSG00000169071 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 2000-10-01 no assertion criteria provided brachydactyly type B1 germline Detail
Pathogenic 2000-10-01 no assertion criteria provided Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) AND Brachydactyly type B1 ClinVar Detail
NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) AND Robinow syndrome, autosomal recessive, with aplasi... 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
rs863223290 dbSNP
Genome
hg38
Position
chr9:91,726,603-91,726,607
Variant Type
snv
Reference Allele
GCCGC
Alternative Allele
-
Genome browser