Full data view for gene ADA

Information The variants shown are described using the NM_000022.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.21C>T likely benign r.(?) p.(=) Unknown g.43280228G>A - ADA(NM_000022.2):c.21C>T (p.F7=) - ADA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.22G>A benign r.(?) p.(Asp8Asn) Unknown g.43280227C>T - ADA(NM_000022.2):c.22G>A (p.D8N) - ADA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.33+3G>A likely benign r.spl? p.? Unknown g.43280213C>T - ADA(NM_000022.2):c.33+3G>A - ADA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36G>A benign r.(?) p.(=) Unknown g.43264927C>T - ADA(NM_000022.2):c.36G>A (p.V12=) - ADA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 2 c.43C>G - r.(?) p.(His15Asp) Unknown g.43264920G>C - - - ADA_000011 submitted through SIB; ExPASy_002210 PubMed: Santisteban et al (1995) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 2 c.58G>A - r.(?) p.(Gly20Arg) Unknown g.43264905C>T - - - ADA_000019 submitted through SIB; ExPASy_002211 PubMed: Yang et al (1994) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-/. - c.95+9A>G benign r.(=) p.(=) Unknown g.43264859T>C - ADA(NM_000022.2):c.95+9A>G - ADA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.106A>C likely benign r.(?) p.(Ile36Leu) Unknown g.43257800T>G - ADA(NM_000022.2):c.106A>C (p.(Ile36Leu)) - ADA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>A likely benign r.(?) p.(=) Unknown g.43257744C>T - ADA(NM_000022.2):c.162G>A (p.K54=) - ADA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>A likely benign r.(?) p.(=) Unknown g.43257744C>T - ADA(NM_000022.2):c.162G>A (p.K54=) - ADA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.219-2A>G - r.219_362del p.Gly74_Glu121del Unknown g.43255242T>C g.44626601T>C IVS3-2A>G - ADA_000032 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/? 4 c.220G>T - r.(?) p.(Gly74Cys) Unknown g.43255239C>A - - - ADA_000001 submitted through SIB; ExPASy_002212 PubMed: Arrendondo-Vega et al (1998) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.226C>T - r.(?) p.(Arg76Trp) Unknown g.43255233G>A g.44626592G>A - - ADA_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/. - c.226C>T pathogenic r.(?) p.(Arg76Trp) Unknown g.43255233G>A - - - ADA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.226C>T - r.(?) p.(Arg76Trp) Unknown g.43255233G>A - - - ADA_000002 submitted through SIB; ExPASy_002213 PubMed: Hirschhorn et al (1990) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/? 4 c.248C>A - r.(?) p.(Ala83Asp) Unknown g.43255211G>T - - - ADA_000003 submitted through SIB; ExPASy_002215 PubMed: Santisteban et al (1995) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 4 c.301C>T - r.(?) p.(Arg101Trp) Unknown g.43255158G>A - - - ADA_000004 submitted through SIB; ExPASy_002217 PubMed: Akeson et al (1988) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 4 c.302G>A - r.(?) p.(Arg101Gln) Unknown g.43255157C>T - - - ADA_000005 submitted through SIB; ExPASy_002218 PubMed: Bonthron et al (1985) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 4 c.302G>T - r.(?) p.(Arg101Leu) Unknown g.43255157C>A - - - ADA_000006 submitted through SIB; ExPASy_002216 PubMed: Santisteban et al (1993) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.320T>C - r.(?) p.(Leu107Pro) Unknown g.43255139A>G g.44626498A>G - - ADA_000007 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/? 4 c.320T>C - r.(?) p.(Leu107Pro) Unknown g.43255139A>G - - - ADA_000007 submitted through SIB; ExPASy_002219 PubMed: Hirschhorn et al (1990) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 5 c.385G>A - r.(?) p.(Val129Met) Unknown g.43254303C>T - - - ADA_000008 submitted through SIB; ExPASy_002220 PubMed: Arrendondo-Vega et al (1998) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 5 c.419G>A - r.(?) p.(Gly140Glu) Unknown g.43254269C>T - - - ADA_000009 submitted through SIB; ExPASy_002221 PubMed: Arrendondo-Vega et al (1998) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.424C>T pathogenic r.(?) p.(Arg142*) Unknown g.43254264G>A - ADA(NM_000022.2):c.424C>T (p.R142*) - ADA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425G>A likely benign r.(?) p.(Arg142Gln) Unknown g.43254263C>T - ADA(NM_000022.2):c.425G>A (p.R142Q) - ADA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 5 c.425G>A - r.(?) p.(Arg142Gln) Unknown g.43254263C>T - - - ADA_000010 submitted through SIB; ExPASy_002222 PubMed: Santisteban et al (1995) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.425G>A likely benign r.(?) p.(Arg142Gln) Unknown g.43254263C>T - ADA(NM_000022.2):c.425G>A (p.R142Q) - ADA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.445C>T - r.(?) p.(Arg149Trp) Unknown g.43254243G>A - - - ADA_000012 submitted through SIB; ExPASy_002224 PubMed: Arrendondo-Vega et al (1998) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 5 c.446G>A - r.(?) p.(Arg149Gln) Unknown g.43254242C>T - - - ADA_000013 submitted through SIB; ExPASy_002223 PubMed: Hirschhorn et al (1990) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 5 c.454C>A - r.(?) p.(Leu152Met) Unknown g.43254234G>T - - - ADA_000014 submitted through SIB; ExPASy_002225; partial ADA deficiency; found in a healthy Afghani child PubMed: Hirschhorn et al (1997) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.466C>T - r.(?) p.(Arg156Cys) Unknown g.43254222G>A g.44625581G>A - - ADA_000015 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/? 5 c.466C>T - r.(?) p.(Arg156Cys) Unknown g.43254222G>A - - - ADA_000015 submitted through SIB; ExPASy_002226 PubMed: Hirschhorn et al (1992) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 5 c.467G>A - r.(?) p.(Arg156His) Unknown g.43254221C>T - - - ADA_000016 submitted through SIB; ExPASy_002227 PubMed: Santisteban et al (1993) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. 5i c.478+2T>C - r.spl? p.? Both (homozygous) g.43254208A>G - - - ADA_000033 - - - - Germline yes - - 0 - DNA SEQ-NG blood amplicon sequencing Severe combined immunodeficiency due to ADA deficiency - - - M yes Turkey Turkısh 00y06m 0 - - 1 Sinem Firtina
-?/. - c.479-9C>T likely benign r.(=) p.(=) Unknown g.43252979G>A - ADA(NM_000022.2):c.479-9C>T - ADA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.529G>A - r.(?) p.(Val177Met) Unknown g.43252920C>T - - - ADA_000017 submitted through SIB; ExPASy_002228 PubMed: Santisteban et al (1993) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 6 c.536C>A - r.(?) p.(Ala179Asp) Unknown g.43252913G>T - - - ADA_000018 submitted through SIB; ExPASy_002229 PubMed: Santisteban et al (1995) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 6 c.596A>C - r.(?) p.(Gln199Pro) Unknown g.43252853T>G - - - ADA_000020 submitted through SIB; ExPASy_002230 PubMed: Arrendondo-Vega et al (1998) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
-?/. - c.606+10G>A likely benign r.(=) p.(=) Unknown g.43252833C>T - ADA(NM_000022.2):c.606+10G>A - ADA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.606+10G>A likely benign r.(=) p.(=) Unknown g.43252833C>T - ADA(NM_000022.2):c.606+10G>A - ADA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 7 c.631C>T - r.(?) p.(Arg211Cys) Unknown g.43251695G>A - - - ADA_000021 submitted through SIB; ExPASy_002231 PubMed: Hirschhorn et al (1990) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.632G>A - r.(?) p.(Arg211His) Unknown g.43251694C>T g.44623053C>T - - ADA_000022 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/? 7 c.632G>A - r.(?) p.(Arg211His) Unknown g.43251694C>T - - - ADA_000022 submitted through SIB; ExPASy_002232 PubMed: Akeson et al (1988) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 7 c.643G>A - r.(?) p.(Ala215Thr) Unknown g.43251683C>T - - - ADA_000023 submitted through SIB; ExPASy_002233 PubMed: Hirschhorn et al (1990) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 7 c.646G>A - r.(?) p.(Gly216Arg) Unknown g.43251680C>T - - - ADA_000024 submitted through SIB; ExPASy_002234 PubMed: Santisteban et al (1993) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 8 c.698C>T - r.(?) p.(Thr233Ile) Unknown g.43251552G>A - - - ADA_000025 submitted through SIB; ExPASy_002235; partial ADA deficiency; found in a healthy young adult Kung individual PubMed: Hirschhorn et al (1997) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.736C>T pathogenic r.(?) p.(Gln246*) Unknown g.43251514G>A - ADA(NM_000022.2):c.736C>T (p.Q246*) - ADA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T - r.(?) p.(Pro274Leu) Unknown g.43251253G>A g.44622612G>A - - ADA_000026 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/? 9 c.821C>T - r.(?) p.(Pro274Leu) Unknown g.43251253G>A - - - ADA_000026 submitted through SIB; ExPASy_002236 PubMed: Hirschhorn et al (1990) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 10 c.872C>T - r.(?) p.(Ser291Leu) Unknown g.43249762G>A - - - ADA_000027 submitted through SIB; ExPASy_002237 PubMed: Santisteban et al (1993) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/? 10 c.872C>T - r.(?) p.(Ser291Leu) Unknown g.43249762G>A - - - ADA_000027 submitted through SIB; ExPASy_002237 PubMed: Hirschhorn et al (1992) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.872C>T pathogenic r.(?) p.(Ser291Leu) Unknown g.43249762G>A - ADA(NM_000022.2):c.872C>T (p.S291L) - ADA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.872C>T pathogenic r.(?) p.(Ser291Leu) Unknown g.43249762G>A - ADA(NM_000022.2):c.872C>T (p.S291L) - ADA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 10 c.890C>A - r.(?) p.(Pro297Gln) Unknown g.43249744G>T - - - ADA_000029 submitted through SIB; ExPASy_002238; partial ADA deficiency PubMed: Hirschhorn et al (1989) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. - c.911T>G - r.(?) p.(Leu304Arg) Unknown g.43249723A>C g.44621082A>C - - ADA_000031 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-?/. - c.941A>G likely benign r.(?) p.(Asp314Gly) Unknown g.43249693T>C - ADA(NM_000022.2):c.941A>G (p.D314G) - ADA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975+10T>G likely benign r.(=) p.(=) Unknown g.43249649A>C - ADA(NM_000022.2):c.975+10T>G - ADA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986C>T - r.(?) p.(Ala329Val) Unknown g.43249032G>A g.44620391G>A - - ADA_000028 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.986C>T - r.(?) p.(Ala329Val) Unknown g.43249032G>A g.44620391G>A - - ADA_000028 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/? 11 c.986C>T - r.(?) p.(Ala329Val) Unknown g.43249032G>A - - - ADA_000028 submitted through SIB; ExPASy_002240 PubMed: Akeson et al (1988) - - Unknown - - - 0 - DNA SEQ - - Severe combined immunodeficiency due to ADA deficiency - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
+/. - c.986C>T pathogenic r.(?) p.(Ala329Val) Unknown g.43249032G>A - - - ADA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1043A>C likely benign r.(?) p.(Tyr348Ser) Unknown g.43248975T>G - ADA(NM_000022.2):c.1043A>C (p.Y348S) - ADA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1537T>G likely benign r.(=) p.(=) Unknown g.43246938A>C - PKIG(NM_001281444.1):c.164A>C (p.(Glu55Ala)) - ADA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend