Full data view for gene SPNS1

Information The variants shown are described using the NM_032038.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-7456266_*336625del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1803322_*2893064dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-886472_*5604380del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.55G>A r.(?) p.(Gly19Arg) Unknown - likely benign g.28986527G>A - SPNS1(NM_032038.3):c.55G>A (p.(Gly19Arg)) - SPNS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1141A>G r.(?) p.(Ile381Val) Unknown - likely benign g.28993852A>G g.28982531A>G SPNS1(NM_001142448.1):c.1141A>G (p.(Ile381Val)) - SPNS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*614G>T r.(=) p.(=) Unknown - likely benign g.28996234G>T - LAT(NM_001014989.2):c.52G>T (p.A18S) - LAT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1421C>T r.(=) p.(=) Unknown - likely benign g.28997041C>T - LAT(NM_001014987.2):c.108C>T (p.Y36=), LAT(NM_014387.3):c.108C>T (p.Y36=) - LAT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1421C>T r.(=) p.(=) Unknown - likely benign g.28997041C>T - LAT(NM_001014987.2):c.108C>T (p.Y36=), LAT(NM_014387.3):c.108C>T (p.Y36=) - LAT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1455A>G r.(=) p.(=) Unknown - likely benign g.28997075A>G - LAT(NM_001014987.2):c.128+14A>G - LAT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2114C>T r.(=) p.(=) Unknown - VUS g.28997734C>T - LAT(NM_014387.3):c.277C>T (p.R93W) - LAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2248T>C r.(=) p.(=) Unknown - likely benign g.28997868T>C g.28986547T>C LAT(NM_014387.3):c.318T>C (p.S106=), LAT(NM_014387.4):c.318T>C (p.S106=) - LAT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2248T>C r.(=) p.(=) Unknown - likely benign g.28997868T>C g.28986547T>C LAT(NM_014387.3):c.318T>C (p.S106=), LAT(NM_014387.4):c.318T>C (p.S106=) - LAT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2320G>A r.(=) p.(=) Unknown - likely benign g.28997940G>A g.28986619G>A LAT(NM_014387.3):c.390G>A (p.P130=), LAT(NM_014387.4):c.390G>A (p.P130=) - LAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2320G>A r.(=) p.(=) Unknown - likely benign g.28997940G>A g.28986619G>A LAT(NM_014387.3):c.390G>A (p.P130=), LAT(NM_014387.4):c.390G>A (p.P130=) - LAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5247C>T r.(=) p.(=) Unknown - likely benign g.29000867C>T - LAT(NM_001014987.2):c.513C>T (p.Y171=) - LAT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.