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Variant : CV672222 (NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)) Homo sapiens

Symbol: CV672222
Name: NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)
Condition: Congenital hydrocephalus [RCV000845205]
Clinical Significance: likely pathogenic
Last Evaluated: 07/05/2018
Review Status: no assertion criteria provided
Related Genes: TRIM71  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_001039111.3:c.1886G>A
NC_000003.12:g.32891090G>A
NC_000003.11:g.32932582G>A
NM_001039111.2:c.1886G>A
NP_001034200.1:p.Arg629His
Position
Human AssemblyChrPosition (strand)Source
GRCh38332,891,090 - 32,891,090CLINVAR
GRCh37332,932,582 - 32,932,582CLINVAR
Cytogenetic Map33p22.3CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14746928
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-10-20
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.