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Variant : CV216919 (NM_004606.4(TAF1):c.1786C>T (p.Pro596Ser)) Homo sapiens

Symbol: CV216919
Name: NM_004606.4(TAF1):c.1786C>T (p.Pro596Ser)
Condition: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 [RCV000203533]|Mental retardation, X-linked, syndromic 33 [RCV000203533]|not provided [RCV000522374]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 03/16/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|literature only
HGVS Name(s): NP_001273003.1:p.Pro596Ser
NM_004606.4:c.1786C>T
NG_012771.2:g.21558C>T
NC_000023.11:g.71382821C>T
NC_000023.10:g.70602671C>T
NP_004597.2:p.Pro596Ser
NM_138923.3:c.1723C>T
NM_001286074.1:c.1786C>T
NR_104387.2:n.1744C>T
NR_104388.1:n.1862C>T
NR_104389.1:n.1862C>T
NM_004606.3:c.1786C>T
NR_104395.1:n.1862C>T
NP_620278.1:p.Pro575Ser
NR_104390.1:n.1862C>T
NR_104391.1:n.1862C>T
NR_104392.1:n.1862C>T
NR_104393.1:n.1862C>T
NR_104394.1:n.1862C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,382,821 - 71,382,821CLINVAR
GRCh37X70,602,671 - 70,602,671CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10766592
Created: 2016-02-09
Species: Homo sapiens
Last Modified: 2019-10-08
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.