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Variant : CV223652 (NM_001080779.2(MYO1C):c.391C>T (p.Arg131Cys)) Homo sapiens

Symbol: CV223652
Name: NM_001080779.2(MYO1C):c.391C>T (p.Arg131Cys)
Condition: Anophthalmia - microphthalmia [RCV000207393]
Clinical Significance: likely benign
Last Evaluated: 01/01/2013
Review Status: criteria provided, single submitter
Related Genes: MYO1C  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.1483016G>A
NC_000017.10:g.1386310G>A
NP_001074248.1:p.Arg131Cys
NG_047063.1:g.14692C>T
NP_001350784.1:p.Arg107Cys
NP_001074419.1:p.Arg112Cys
NP_203693.3:p.Arg96Cys
NM_033375.5:c.286C>T
NM_001363855.1:c.319C>T
NM_001080950.2:c.334C>T
NM_001080779.2:c.391C>T
NM_001080779.1:c.391C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38171,483,016 - 1,483,016CLINVAR
GRCh37171,386,310 - 1,386,310CLINVAR
Cytogenetic Map1717p13.3CLINVAR
Trait Synonyms: Anophthalmia/Microphthalmia



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11040251
Created: 2016-03-08
Species: Homo sapiens
Last Modified: 2020-09-29
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.