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Variant : CV577379 (NM_178013.4(PRIMA1):c.99G>C (p.Thr33=)) Homo sapiens

Symbol: CV577379
Name: NM_178013.4(PRIMA1):c.99G>C (p.Thr33=)
Condition: not provided [RCV000712858]
Clinical Significance: likely benign
Last Evaluated: 01/09/2019
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: PRIMA1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_178013.4:c.99G>C
NG_009069.1:g.14115G>C
NC_000014.9:g.93779306C>G
NC_000014.8:g.94245652C>G
NP_821092.1:p.Thr33=
NM_178013.3:c.99G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381493,779,306 - 93,779,306CLINVAR
GRCh371494,245,652 - 94,245,652CLINVAR
Cytogenetic Map1414q32.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13811219
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-01-14
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.