Full data view for gene SARM1

Information The variants shown are described using the NM_015077.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-4571A>G r.(?) p.(=) Unknown - benign g.26694483A>G g.28367462A>G - - SEBOX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4193G>A r.(?) p.(=) Unknown - benign g.26694861G>A g.28367840G>A - - SEBOX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3350A>G r.(?) p.(=) Unknown - benign g.26695704A>G g.28368683A>G - - SEBOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153C>G r.(?) p.(Arg51=) Unknown - likely benign g.26699204C>G g.28372185C>G SARM1(NM_015077.4):c.151C>G (p.R51G) - SARM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.893C>A r.? p.? Unknown - VUS g.26708646C>A - c.893C>A - SARM1_000005 - PubMed: Borràs 2013 - - Germline no n/a - - - DNA SEQ-NG, SEQ blood - retinal disease RP-83 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
-?/. - c.1922-34A>G - - Parent #1 - likely benign g.26722890A>G g.28395871A>G - - SARM1_000001 35 heterozygous, no homozygous; Clinindb (India) Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs117451747 Germline - 35/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 35 Mohammed Faruq
-?/. - c.*527C>T r.(=) p.(=) Parent #1 - likely benign g.26723832C>T g.28396813C>T - - SARM1_000002 29 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118138669 Germline - 29/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 29 Mohammed Faruq
-?/. - c.*527C>T r.(=) p.(=) Both (homozygous) - likely benign g.26723832C>T g.28396813C>T - - SARM1_000002 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118138669 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.*3381G>A r.(=) p.(=) Unknown - likely benign g.26726686G>A g.28399670G>A SLC46A1(NM_080669.3):c.1366C>T (p.P456S) - SLC46A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*4410G>C r.(=) p.(=) Unknown - likely pathogenic g.26727715G>C - SLC46A1(NM_080669.3):c.1233C>G (p.N411K) - SARM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4415_*4417= r.(=) p.(=) Unknown - benign g.26727723del - SARM1(NM_015077.4):c.*4419delA, SLC46A1(NM_080669.3):c.1226delT (p.I409Tfs*10) - SARM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4418T>C r.(=) p.(=) Unknown - likely benign g.26727724T>C g.28400707T>C SLC46A1(NM_001242366.1):c.1141A>G (p.(Ile381Val)) - SLC46A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8654G>C r.(=) p.(=) Unknown - likely benign g.26731959G>C - SLC46A1(NM_080669.3):c.756C>G (p.V252=) - SLC46A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8664C>T r.(=) p.(=) Unknown - likely benign g.26731969C>T g.28404951C>T SLC46A1(NM_001242366.1):c.746G>A (p.(Arg249Gln)) - SLC46A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8898A>T r.(=) p.(=) Unknown - VUS g.26732203A>T g.28405185A>T SLC46A1(NM_080669.3):c.512T>A (p.V171D), SLC46A1(NM_080669.6):c.512T>A (p.(Val171Asp)) - SLC46A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8898A>T r.(=) p.(=) Unknown - VUS g.26732203A>T - SLC46A1(NM_080669.3):c.512T>A (p.V171D), SLC46A1(NM_080669.6):c.512T>A (p.(Val171Asp)) - SLC46A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8985C>A r.(=) p.(=) Unknown - likely benign g.26732290C>A g.28405272C>A SLC46A1(NM_080669.3):c.425G>T (p.G142V) - SLC46A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8996C>T r.(=) p.(=) Unknown - likely benign g.26732301C>T g.28405283C>T SLC46A1(NM_080669.3):c.414G>A (p.Q138=) - SLC46A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9116G>T r.(=) p.(=) Unknown - likely benign g.26732421G>T g.28405403G>T SLC46A1(NM_080669.3):c.294C>A (p.L98=) - SLC46A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9116G>T r.(=) p.(=) Unknown - likely benign g.26732421G>T g.28405403G>T SLC46A1(NM_080669.3):c.294C>A (p.L98=) - SLC46A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9138A>G r.(=) p.(=) Unknown - likely benign g.26732443A>G g.28405425A>G SLC46A1(NM_080669.3):c.272T>C (p.V91A) - SLC46A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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