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Variant : CV223407 (GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1) Homo sapiens

Symbol: CV223407
Name: GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1
Condition: Premature ovarian failure [RCV000225350]
Clinical Significance: pathogenic
Last Evaluated: 01/07/2015
Review Status: criteria provided, single submitter
Related Genes: BLK   C8orf74   CLDN23   CTSB   DEFB130A   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FAM86B1   FDFT1   GATA4   MFHAS1   MIR124-1   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   TNKS   USP17L2   USP17L7   XKR6   ZNF705D  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: reference population
Position
Human AssemblyChrPosition (strand)Source
GRCh3788,131,816 - 12,249,050CLINVAR
Cytogenetic Map88p23.1CLINVAR
Trait Synonyms: PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11345309
Created: 2016-07-12
Species: Homo sapiens
Last Modified: 2020-06-30
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.