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Variant : CV550229 (NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del) AND OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY,) Homo sapiens

Symbol: CV550229
Name: NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del) AND OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY,
Condition: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS [RCV000714513]|Synpolydactyly 1 [RCV000678393]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 01/10/2019
Review Status: no assertion criteria provided
Related Genes: CHST11  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: literature only|research
HGVS Name(s): NM_001173982.2:c.467_481del
NC_000012.11:g.105151004_105151018del
NP_060883.1:p.Leu161_Asn165del
NC_000012.12:g.104757226_104757240del
NG_029810.1:g.305313_305327del
NP_001167453.1:p.Leu156_Asn160del
NM_018413.6:c.482_496del
NG_029810.2:g.305313_305327del
NM_001173982.1:c.467_481del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812104,757,222 - 104,757,236CLINVAR
GRCh3712105,151,000 - 105,151,014CLINVAR
Cytogenetic Map1212q23.3CLINVAR
Trait Synonyms: Brachydactyly; Brachydactyly syndrome; Chondrodysplasia; clino-symphalangism; overriding digits; Syndactyly type 2; Syndactyly, type II



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13798475
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.