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Variant : CV428351 (NM_014423.4(AFF4):c.2445C>T (p.Pro815=)) Homo sapiens

Symbol: CV428351
Name: NM_014423.4(AFF4):c.2445C>T (p.Pro815=)
Condition: not specified [RCV000501621]
Clinical Significance: likely benign
Last Evaluated: 01/22/2016
Review Status: criteria provided, single submitter
Related Genes: AFF4  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_030340.1:g.76307C>T
NC_000005.10:g.132892356G>A
NC_000005.9:g.132228048G>A
NP_055238.1:p.Pro815=
NM_014423.4:c.2445C>T
NM_014423.3:c.2445C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh385132,892,356 - 132,892,356CLINVAR
GRCh375132,228,048 - 132,228,048CLINVAR
Cytogenetic Map55q31.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13214854
Created: 2017-09-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.