View transcript #00003248

Transcript name transcript variant 2
Gene name PCDH19 (protocadherin 19)
Chromosome X
Transcript - NCBI ID NM_020766.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_065817.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.142G>T p.(Glu48*) stop_gained - 1/5 - r.(?) -
+/+ c.253C>T p.(Gln85*) stop_gained - 1/5 - r.(?) -
+/+ c.1322T>A p.(Val441Glu) missense_variant - 1/5 probably_damaging(0.998) r.(?) deleterious(0)
+/+ c.1671C>G p.(Asn557Lys) missense_variant - 1/5 probably_damaging(0.999) r.(?) deleterious(0)
+/+ c.2012C>G p.(Ser671*) stop_gained - 1/5 - r.(?) -
Legend