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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2000-10-01 | no assertion criteria provided | brachydactyly type B1 |
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Detail |
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2000-10-01 | no assertion criteria provided | Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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