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Variant : CV801905 (NM_016111.4(TELO2):c.2167G>T (p.Val723Phe)) Homo sapiens

Symbol: CV801905
Name: NM_016111.4(TELO2):c.2167G>T (p.Val723Phe)
Condition: Microcephaly [RCV001252903]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: TELO2  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NM_001351846.2:c.2167G>T
NM_016111.3:c.2167G>T
NC_000016.9:g.1556993G>T
NP_001338775.1:p.Val723Phe
NM_016111.4:c.2167G>T
NG_050910.1:g.18649G>T
NC_000016.10:g.1506992G>T
NP_057195.2:p.Val723Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh38161,506,992 - 1,506,992CLINVAR
GRCh37161,556,993 - 1,556,993CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Trait Synonyms: Abnormally small cranium; Abnormally small head; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of head; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head; Small head circumference; Small skull



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 38597078
Created: 2020-09-08
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.