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Variant : CV610461 (NM_020547.3(AMHR2):c.1280T>G (p.Leu427Trp)) Homo sapiens

Symbol: CV610461
Name: NM_020547.3(AMHR2):c.1280T>G (p.Leu427Trp)
Condition: Premature ovarian insufficiency [RCV000766172]
Clinical Significance: uncertain significance
Last Evaluated: 01/10/2018
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: AMHR2  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: research
HGVS Name(s): NM_020547.3:c.1280T>G
NG_015981.1:g.11116T>G
NC_000012.12:g.53429970T>G
NC_000012.11:g.53823754T>G
NP_065434.1:p.Leu427Trp
NM_001164691.2:c.1140+345T>G
NM_001164690.2:c.1280T>G
NP_001158162.1:p.Leu427Trp
Position
Human AssemblyChrPosition (strand)Source
GRCh381253,429,970 - 53,429,970CLINVAR
GRCh371253,823,754 - 53,823,754CLINVAR
Cytogenetic Map1212q13.13CLINVAR
Trait Synonyms: Climacterium praecox; Early menopause; Hypergonadotropic amenorrhea; Menopause praecox; Premature menopause



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399898
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-11-17
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.