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Variant : CV286600 (NM_000534.4(PMS1):c.-257C>G) Homo sapiens

Symbol: CV286600
Name: NM_000534.4(PMS1):c.-257C>G
Condition: Lynch syndrome [RCV000315332]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ORMDL1   PMS1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_221t1:c.-257C>G
NM_000534.4:c.-257C>G
LRG_221:g.5273C>G
NG_008648.1:g.5273C>G
NC_000002.12:g.189784357C>G
NC_000002.11:g.190649083C>G
NR_110332.1:n.273C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh382189,784,357 - 189,784,357CLINVAR
GRCh372190,649,083 - 190,649,083CLINVAR
Cytogenetic Map22q32.2CLINVAR
Trait Synonyms: Hereditary nonpolyposis colon cancer



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11654121
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-07-09
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.