NM_018112.3(TMEM38B):c.661-8delRat Genome Database
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Variant : CV920258 (NM_018112.3(TMEM38B):c.661-8del) Homo sapiens

Symbol: CV920258
Name: NM_018112.3(TMEM38B):c.661-8del
RGD ID: 38461219
Condition: Osteoporosis [RCV001197401]
Clinical Significance: uncertain significance
Last Evaluated: 05/15/2019
Review Status: criteria provided, single submitter
Related Genes: TMEM38B  
Variant Type: deletion (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.105773852del
NC_000009.12:g.105773857del
NM_018112.3:c.661-8del
NG_032971.1:g.84333del
NM_018112.2:c.661-13delT
NC_000009.11:g.108536138del
Position
Human AssemblyChrPosition (strand)Source
GRCh389105,773,852 - 105,773,852CLINVAR
GRCh379108,536,133 - 108,536,133CLINVAR
Cytogenetic Map99q31.2CLINVAR
Trait Synonyms: Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures



Disease Annotations     Click to see Annotation Detail View
osteoporosis  (IAGP)

Additional References at PubMed
PMID:30311386  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001197401 CLINVAR
MedGen C2911643 CLINVAR
NCBI Gene TMEM38B CLINVAR
OMIM 611236 CLINVAR