Full data view for gene SOHLH1

Information The variants shown are described using the NM_001012415.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.-2978G>A r.(?) p.(=) Unknown - benign g.138594291C>T g.135702445C>T KCNT1(NM_020822.2):c.110+77C>T - KCNT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2939G>A r.(?) p.(=) Unknown - likely benign g.138594252C>T g.135702406C>T KCNT1(NM_020822.2):c.110+38C>T - KCNT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2890T>C r.(?) p.(=) Unknown - likely benign g.138594203A>G g.135702357A>G KCNT1(NM_020822.2):c.99A>G (p.Q33=), KCNT1(NM_020822.3):c.99A>G (p.Q33=) - KCNT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2890T>C r.(?) p.(=) Unknown - likely benign g.138594203A>G g.135702357A>G KCNT1(NM_020822.2):c.99A>G (p.Q33=), KCNT1(NM_020822.3):c.99A>G (p.Q33=) - KCNT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2864G>A r.(?) p.(=) Unknown - VUS g.138594177C>T g.135702331C>T KCNT1(NM_001272003.1):c.73C>T (p.(Arg25Trp)) - KCNT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2850C>G r.(?) p.(=) Unknown - likely benign g.138594163G>C g.135702317G>C KCNT1(NM_020822.2):c.59G>C (p.G20A) - KCNT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2849C>T r.(?) p.(=) Unknown - likely benign g.138594162G>A g.135702316G>A KCNT1(NM_001272003.1):c.58G>A (p.(Gly20Arg)) - KCNT1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2841G>A r.(?) p.(=) Unknown - VUS g.138594154C>T - KCNT1(NM_020822.3):c.50C>T (p.A17V) - KCNT1_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2821C>T r.(?) p.(=) Unknown - benign g.138594134G>A g.135702288G>A KCNT1(NM_020822.2):c.30G>A (p.P10=), KCNT1(NM_020822.3):c.30G>A (p.P10=) - KCNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2821C>T r.(?) p.(=) Unknown - benign g.138594134G>A g.135702288G>A KCNT1(NM_020822.2):c.30G>A (p.P10=), KCNT1(NM_020822.3):c.30G>A (p.P10=) - KCNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.138591313T>C g.135699467T>C SOHLH1(NM_001012415.2):c.1A>G (p.(Met1?)) - KCNT1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.27C>G r.(?) p.(Tyr9*) Parent #1 - pathogenic (recessive) g.138591287G>C g.135699441G>C - - SOHLH1_000019 - Journal: Bayram 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamCF1374Pat03/04 PubMed: Bayram 2015 2-generation family, 2 affected sister, unaffected heterozygous carrier parents - yes Turkey - - - - - 2 Johan den Dunnen
-/. - c.48T>C r.(?) p.(Pro16=) Parent #1 - benign g.138591266A>G g.135699420A>G 48C>T - SOHLH1_000018 - PubMed: Choi 2010 - rs559326 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.48T>C r.(?) p.(Pro16=) Both (homozygous) - benign g.138591266A>G g.135699420A>G 48C>T - SOHLH1_000018 - PubMed: Choi 2010 - rs3118655 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.65+19G>A r.(?) p.(=) Parent #1 - likely benign g.138591230C>T g.135699384C>T 65+19A>G - SOHLH1_000017 - PubMed: Choi 2010 - rs558113 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.65+19G>A r.(?) p.(=) Both (homozygous) - benign g.138591230C>T g.135699384C>T 65+19A>G - SOHLH1_000017 - PubMed: Choi 2010 - rs484524 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
?/. - c.66-8C>T r.(=) p.(=) Unknown - VUS g.138590980G>A g.135699134G>A SOHLH1(NM_001012415.2):c.66-8C>T (p.(=)) - KCNT1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.91T>C r.(?) p.(Cys31Arg) Parent #1 - benign g.138590947A>G g.135699101A>G - - SOHLH1_000016 - PubMed: Choi 2010 - - Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.110A>G r.(?) p.(Gln37Arg) Parent #1 - benign g.138590928C= g.135699082C= - - SOHLH1_000004 - PubMed: Choi 2010 - rs471525 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.110A>G r.(?) p.(Gln37Arg) Both (homozygous) - benign g.138590928C= g.135699082C= - - SOHLH1_000004 - PubMed: Choi 2010 - rs572335 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.198-25G>A r.(?) p.(=) Parent #1 - benign g.138590347C>T g.135698501C>T 198-25A>G - SOHLH1_000015 - PubMed: Choi 2010 - rs529976 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.198-25G>A r.(?) p.(=) Both (homozygous) - benign g.138590347C>T g.135698501C>T 198-25A>G - SOHLH1_000015 - PubMed: Choi 2010 - rs529976 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.210G>A r.(?) p.(=) Unknown - likely benign g.138590310C>T - SOHLH1(NM_001101677.2):c.210G>A (p.(Ser70=)) - KCNT1_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272C>T r.(?) p.(Ala91Val) Unknown - VUS g.138590248G>A - SOHLH1(NM_001012415.2):c.272C>T (p.A91V) - KCNT1_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.345+37A>G r.(?) p.(=) Parent #1 - benign g.138590138T>C g.135698292T>C 345+37G>A - SOHLH1_000014 - PubMed: Choi 2010 - rs506498 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.345+37A>G r.(?) p.(=) Both (homozygous) - benign g.138590138T>C g.135698292T>C 345+37G>A - SOHLH1_000014 - PubMed: Choi 2010 - rs506498 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
+?/. - c.346-1G>A r.spl p.? Unknown ACMG likely pathogenic (dominant) g.138589474C>T g.135697628C>T - - SOHLH1_000013 - PubMed: Nakamura 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFM Pat1 PubMed: Nakamura 2017 - - - Japan - - - - - 1 Johan den Dunnen
+?/. - c.346-1G>A r.spl p.? Unknown ACMG likely pathogenic (dominant) g.138589474C>T g.135697628C>T - - SOHLH1_000013 - PubMed: Nakamura 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFM Pat2 PubMed: Nakamura 2017 - - - Japan - - - - - 1 Johan den Dunnen
+?/. 3i c.346-1G>T r.(346_363del) p.(Ile116_Ly121del) Unknown - likely pathogenic (dominant) g.138589474C>A g.135697628C>A - - SOHLH1_000003 effect on splicing predicted from exon trapping in HEK293 cells; variant not in 159 controls PubMed: Choi 2010 - - Germline/De novo (untested) - 2/96 cases - - - DNA SEQ - - INFM FamBPatA101 PubMed: Choi 2010 3-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
+?/. 3i c.346-1G>T r.(346_363del) p.(Ile116_Ly121del) Parent #1 - likely pathogenic (dominant) g.138589474C>A g.135697628C>A - - SOHLH1_000003 effect on splicing predicted from exon trapping in HEK293 cells; variant not in 159 controls PubMed: Choi 2010 - - Germline/De novo (untested) - 2/96 cases - - - DNA SEQ - - INFM FamAPatA33 PubMed: Choi 2010 3-generation family, 1 affected M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.404C>T r.(?) p.(Thr135Met) Unknown - likely benign g.138589415G>A g.135697569G>A SOHLH1(NM_001101677.2):c.404C>T (p.(Thr135Met)) - KCNT1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.467+41C>T r.(?) p.(=) Parent #1 - likely benign g.138589311G>A g.135697465G>A - - SOHLH1_000012 - PubMed: Choi 2010 - rs7036532 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.529C>A r.(?) p.(Pro177Thr) Parent #1 - likely benign g.138588590G>T g.135696744G>T - - SOHLH1_000011 - PubMed: Choi 2010 - - Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.537C>T r.(?) p.(Pro179=) Unknown - likely benign g.138588582G>A g.135696736G>A SOHLH1(NM_001012415.2):c.537C>T (p.P179=) - SOHLH1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.705del r.(?) p.(Lys236Argfs*3) Parent #1 - pathogenic (recessive) g.138587066del g.135695220del - - SOHLH1_000010 - Journal: Bayram 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamHOU1852PatBAB4619/4620 PubMed: Bayram 2015 2-generation family, 2 affected sister, unaffected heterozygous carrier parents - yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.705del r.(?) p.(Lys236Argfs*3) Unknown - pathogenic g.138587066del - SOHLH1(NM_001101677.2):c.705delT (p.K236Rfs*3) - SOHLH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804G>T r.(?) p.(Gly268=) Both (homozygous) - benign g.138586967C>A g.135695121C>A 804T>G - SOHLH1_000009 no heterozygotes PubMed: Choi 2010 - rs3119933 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.805C>T r.(?) p.(Pro269Ser) Both (homozygous) - benign g.138586966G>A g.135695120G>A 805T>C - SOHLH1_000008 no heterozygotes PubMed: Choi 2010 - rs3119932 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.875+42G>A r.(?) p.(=) Both (homozygous) - benign g.138586854C>T g.135695008C>T 875+42>G - SOHLH1_000007 no heterozygotes PubMed: Choi 2010 - rs3118655 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.876-6T>C r.(?) p.(=) Parent #1 - benign g.138586309A>G g.135694463A>G 876-6C>T - SOHLH1_000006 - PubMed: Choi 2010 - rs484524 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.876-6T>C r.(?) p.(=) Both (homozygous) - benign g.138586309A>G g.135694463A>G 876-6C>T - SOHLH1_000006 - PubMed: Choi 2010 - rs484524 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.981C>T r.(?) p.(Pro327=) Parent #1 - benign g.138586198G>A g.135694352G>A 981T>C - SOHLH1_000005 - PubMed: Choi 2010 - rs572335 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-/. - c.981C>T r.(?) p.(Pro327=) Both (homozygous) - benign g.138586198G>A g.135694352G>A 981T>C - SOHLH1_000005 - PubMed: Choi 2010 - rs572335 Germline - - - - - DNA SEQ - - INFM - PubMed: Choi 2010 analysis 96 cases nonobstructive azoospermia M - Korea - - - - - 1 Johan den Dunnen
-?/. - c.*575A>G r.(=) p.(=) Unknown - likely benign g.138585617T>C - SOHLH1(NM_001101677.1):c.990A>G (p.P330=) - SOHLH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*688G>C r.(=) p.(=) Unknown - likely benign g.138585504C>G g.135693658C>G SOHLH1(NM_001101677.1):c.1103G>C (p.C368S) - SOHLH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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