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Variant : CV339370 (NM_003179.2(SYP):c.-8C>T) Homo sapiens

Symbol: CV339370
Name: NM_003179.2(SYP):c.-8C>T
Condition: Non-syndromic X-linked intellectual disability [RCV000392645]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SYP   SYP-AS1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_003179.2:c.-8C>T
NG_012532.1:g.5009C>T
NC_000023.11:g.49200194G>A
NC_000023.10:g.49056653G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X49,200,194 - 49,200,194CLINVAR
GRCh37X49,056,653 - 49,056,653CLINVAR
Cytogenetic MapXXp11.23CLINVAR
Trait Synonyms: Mental retardation, nonsyndromic, X-linked; X-linked mental retardation; X-linked non-specific intellectual disability



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11624929
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-09-10
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.