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Variant : CV612390 (NM_020319.3(ANKMY2):c.203A>T (p.His68Leu)) Homo sapiens

Symbol: CV612390
Name: NM_020319.3(ANKMY2):c.203A>T (p.His68Leu)
Condition: Severe Myopia [RCV000785680]
Clinical Significance: uncertain significance
Last Evaluated: 12/17/2018
Review Status: no assertion criteria provided
Related Genes: ANKMY2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NC_000007.13:g.16666733T>A
NM_020319.2:c.203A>T
NP_064715.1:p.His68Leu
NC_000007.14:g.16627108T>A
NM_020319.3:c.203A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38716,627,108 - 16,627,108CLINVAR
GRCh37716,666,733 - 16,666,733CLINVAR
Cytogenetic Map77p21.1CLINVAR
Trait Synonyms: High myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted



Disease Annotations     Click to see Annotation Detail View
High Myopia  (IAGP)


Additional Information

Database Acc Id Source(s)
ClinVar RCV000785680 CLINVAR
dbSNP (RS) rs944599231 CLINVAR
MedGen C0271183 CLINVAR
NCBI Gene ANKMY2 CLINVAR

 
CRRD Object Information
CRRD ID: 14696134
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2020-10-15
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.