Transcript #00000050

Transcript name nephrosis 1, congenital, Finnish type (nephrin)
Gene name NPHS1 (nephrosis 1, congenital, Finnish type (nephrin))
Chromosome 19
Transcript - NCBI ID NM_004646.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004637.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

305 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/? 00 c.-475_-468delGAGAGAGA - r.? p.?
?/? 00 c.-469_-468delGA - r.? p.?
+?/+? 00 c.-340G>C - r.? p.?
-/. - c.-61G>A benign r.(=) p.(=)
./. - c.? - r.? p.?
-/. - c.17C>T benign r.(?) p.(Thr6Met)
+?/+? i01 c.58+1G>T - r.spl? p.?
-/. - c.59-5C>G benign r.spl? p.?
-/. - c.59-5C>G benign r.spl? p.?
+/+ - c.106delG - r.(?) p.(Ala36Profs*6)
+/. - c.121_122del pathogenic r.(?) p.(Leu41Aspfs*50)
+/. - c.121_122del pathogenic r.(?) p.(Leu41Aspfs*50)
+/+ 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50)
+/+ 02 c.139delG - r.(139delg) p.(Ala47Profs*81)
+?/. - c.162_176del likely pathogenic r.(?) p.(Val55_Gly59del)
+?/+? 02 c.191G>C - r.(191g>c) p.(Trp64Ser)
+/+ 02 c.248dupA - r.(248dupa) p.(Tyr83*)
?/. - c.274+3A>T VUS r.spl? p.?
+?/+? 03 c.286C>G - r.(286c>g) p.(Leu96Val)
-/. - c.294C>T benign r.(=) p.(=)
+?/+? 03 c.313G>A - r.(313g>a) p.(Asp105Asn)
+?/+? 03 c.319G>A - r.(319g>a) p.(Ala107Thr)
?/? 03 c.320C>T - r.(320c>u) p.(Ala107Val)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
-/. - c.349G>A benign r.(?) p.(Glu117Lys)
-/. - c.349G>A benign r.(?) p.(Glu117Lys)
-/. - c.349G>A benign r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. - c.349G>A - r.(?) p.(Glu117Lys)
?/. 3 c.361G>A - r.(?) p.(Glu121Lys)
-/. - c.397+15C>T benign r.(=) p.(=)
+?/+? i03 c.398-1G>A - r.spl? p.?
+/+ 04 c.468C>G - r.(468c>g) p.(Tyr156*)
+/+ 04 c.468C>G - r.(?) p.(Tyr156*)
+/. - c.468C>G pathogenic r.(?) p.(Tyr156*)
+?/+? 04 c.479G>C - r.(479g>c) p.(Cys160Ser)
+?/+? 04 c.500C>T - r.(500c>u) p.(Pro167Leu)
+?/+? 04 c.512T>A - r.(512u>a) p.(Ile171Asn)
+?/. - c.515_517del likely pathogenic r.(?) p.(Thr172del)
+/. 4 c.515_517del - r.(?) p.(Thr172del)
+?/+? 04 c.515_517delCCA - r.(515_517delcca) p.(Thr172del)
+/+ 04 c.516delC - r.(516delc) p.(Ile173Phefs*3)
+?/+? 04 c.518T>A - r.(518u>a) p.(Ile173Asn)
+?/+? i04 c.526+5G>C - r.spl? p.?
-/. - c.526+83C>T benign r.(=) p.(=)
+/+ 05 c.532C>T - r.(532c>u) p.(Gln178*)
+/+ 05 c.534delG - r.(534delg) p.(Thr179Glnfs*9)
-/. - c.563A>T benign r.(?) p.(Asn188Ile)
+/+ 05 c.574C>T - r.(574c>u) p.(Gln192*)
+?/+? i05 c.609-2A>C - r.spl? p.?
+/+ 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle)
+/. - c.644T>G pathogenic r.(?) p.(Leu215Arg)
?/. - c.658T>G - r.(?) p.(Ser220Ala)
?/. - c.658T>G VUS r.(?) p.(Ser220Ala)
+/+ 06 c.661_662delAG - r.(661_662delag) p.(Ser221Profs*31)
+/+ 06 c.692C>A - r.(692c>a) p.(Ser231*)
+?/+? 07 c.710T>C - r.(?) p.(Leu237Pro)
+/+ 07 c.736G>T - r.(736g>u) p.(Glu246*)
+?/. - c.741G>T likely pathogenic r.(?) p.(Trp247Cys)
+?/+? 07 c.766C>T - r.(766c>u) p.(Arg256Trp)
?/. 7 c.791C>G - r.(?) p.(Pro264Arg)
?/. - c.791C>G - r.(?) p.(Pro264Arg)
?/. - c.791C>G - r.(?) p.(Pro264Arg)
-/. - c.791C>G benign r.(?) p.(Pro264Arg)
?/. 7 c.791C>G - r.(?) p.(Pro264Arg)
?/. 7 c.791C>G - r.(?) p.(Pro264Arg)
?/. 7 c.791C>G - r.(?) p.(Pro264Arg)
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