Full data view for gene PAFAH1B1

Information The variants shown are described using the NM_000430.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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     
+/. 1i_11_ c.(?_-1)_(*1_?)del r.? p.? Unknown - pathogenic g.(?_2541583)_(2585096_?)del - chr17:2541583-?_2585096+?del - PAFAH1B1_000044 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2769 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.2541583A>G g.2638289A>G PAFAH1B1(NM_000430.3):c.1A>G (p.M1?) - PAFAH1B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32+12971T>G r.(=) p.(=) Unknown - likely benign g.2554585T>G - PAFAH1B1(NM_000430.4):c.32+12971T>G - PAFAH1B1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33-6173C>T r.(=) p.(=) Unknown - likely benign g.2562493C>T - PAFAH1B1(NM_000430.4):c.33-6173C>T - PAFAH1B1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_5i c.(?_33-6000)_(400-1355_?)dup r.(33_399dup) p.(Val134Lysfs*14) Unknown ACMG pathogenic (dominant) g.(?_2562666)_(2572102_?)dup g.(?_2659373)_(2668808_?)dup - - PAFAH1B1_000055 - PubMed: Xiao 2024 - - De novo yes - - - - DNA OM whole blood - neurodegeneration OGM_P4 PubMed: Xiao 2024 - M no China Chinese - - - - 3 Xiaomei Luo
+/. - c.33-5905_*996882inv r.? p.? Parent #1 - pathogenic (dominant) g.2562761_3581978inv g.2659467_3678684inv 2562761_3581978inv - PAFAH1B1_000056 - - - - De novo - - - - - DNA SEQ-NG - - LIS1 - - - M - China - - - - - 1 Min Peng
-?/. - c.33-5831del r.(=) p.(=) Unknown - likely benign g.2562835del - PAFAH1B1(NM_000430.4):c.33-5831del - PAFAH1B1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.33-3C>T r.spl? p.? Parent #1 - pathogenic g.2568663C>T g.2665369C>T - - PAFAH1B1_000037 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587784260 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.33-3C>T r.spl? p.? Unknown - VUS g.2568663C>T - PAFAH1B1(NM_000430.3):c.33-3C>T - PAFAH1B1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.33-3C>T r.[33_117del,=] p.[Asn12MetfsTer4,=] Unknown - likely pathogenic g.2568663C>T g.2665369C>T - - PAFAH1B1_000037 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
?/. - c.59G>A r.(?) p.(Arg20His) Unknown - VUS g.2568692G>A g.2665398G>A PAFAH1B1(NM_000430.3):c.59G>A (p.(Arg20His)) - PAFAH1B1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.62C>A r.(?) p.(Ser21Ter) Unknown - pathogenic g.2568695C>A g.2665401C>A PAFAH1B1(NM_000430.3):c.62C>A (p.S21*) - PAFAH1B1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.111A>C r.(?) p.(Leu37Phe) Unknown - VUS g.2568744A>C - PAFAH1B1(NM_000430.4):c.111A>C (p.(Leu37Phe)) - PAFAH1B1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.116_117+2dup r.spl p.? Unknown ACMG pathogenic (dominant) g.2568749_2568752dup g.2665455_2665458dup - - PAFAH1B1_000049 - - ClinVar-1373706 rs2151659410 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing LIS1 3bINP-041 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
?/. - c.117_117+2del r.spl? p.? Unknown - VUS g.2568750_2568752del g.2665456_2665458del - - PAFAH1B1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.118-14T>C r.(=) p.(=) Unknown - benign g.2569296T>C g.2666002T>C PAFAH1B1(NM_000430.3):c.118-14T>C - PAFAH1B1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.121G>A r.(?) p.(Glu41Lys) Parent #1 - likely pathogenic g.2569313G>A g.2666019G>A - - PAFAH1B1_000038 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587784250 Germline - 1/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.162del r.(?) p.(Lys54Asnfs*15) Parent #1 - pathogenic g.2569354del g.2666060del - - PAFAH1B1_000039 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113994198 Germline - 5/2689 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/. - c.334dup r.(?) p.(Thr112AsnfsTer22) Unknown - pathogenic g.2570427dup g.2667133dup PAFAH1B1(NM_000430.3):c.334dupA (p.T112Nfs*22) - PAFAH1B1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.337C>T r.(?) p.(Arg113Ter) Unknown - pathogenic g.2570430C>T g.2667136C>T PAFAH1B1(NM_000430.3):c.337C>T (p.R113*) - PAFAH1B1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.387T>C r.(?) p.(Asp129=) Unknown - benign g.2570480T>C g.2667186T>C PAFAH1B1(NM_000430.3):c.387T>C (p.D129=) - PAFAH1B1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.416del r.(?) p.(Thr139MetfsTer34) Unknown - pathogenic g.2573473del g.2670179del PAFAH1B1(NM_000430.3):c.416delC (p.T139Mfs*34) - PAFAH1B1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430C>T r.(?) p.(Arg144Ter) Unknown - pathogenic g.2573487C>T g.2670193C>T PAFAH1B1(NM_000430.3):c.430C>T (p.R144*) - PAFAH1B1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.442G>T r.(?) p.(Gly148Ter) Unknown - pathogenic g.2573499G>T g.2670205G>T PAFAH1B1(NM_000430.3):c.442G>T (p.G148*) - PAFAH1B1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474C>T r.(?) p.(Phe158=) Unknown - benign g.2573531C>T g.2670237C>T PAFAH1B1(NM_000430.3):c.474C>T (p.F158=) - PAFAH1B1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.512A>C r.(?) p.(Asp171Ala) Unknown - pathogenic g.2573569A>C g.2670275A>C PAFAH1B1(NM_000430.3):c.512A>C (p.D171A) - PAFAH1B1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568+8G>C r.(=) p.(=) Unknown - likely benign g.2573633G>C g.2670339G>C PAFAH1B1(NM_000430.3):c.568+8G>C (p.(=)) - PAFAH1B1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568+27C>T r.(=) p.(=) Unknown - benign g.2573652C>T g.2670358C>T PAFAH1B1(NM_000430.3):c.568+27C>T - PAFAH1B1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569-10T>C r.(=) p.(=) Unknown - pathogenic g.2575939T>C - - - PAFAH1B1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569-10_569-9insTAA r.(=) p.(=) Unknown - pathogenic g.2575939_2575940insTAA g.2672645_2672646insTAA PAFAH1B1(NM_000430.3):c.569-9_569-8insAAT - PAFAH1B1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581A>G r.(?) p.(Asn194Ser) Unknown - VUS g.2575961A>G - PAFAH1B1(NM_000430.4):c.581A>G (p.N194S) - PAFAH1B1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.655T>G r.(?) p.(Trp219Gly) Unknown - pathogenic g.2576035T>G g.2672741T>G PAFAH1B1(NM_000430.3):c.655T>G (p.W219G) - PAFAH1B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.661G>A r.(?) p.(Val221Met) Unknown - VUS g.2576041G>A - PAFAH1B1(NM_000430.3):c.661G>A (p.(Val221Met)) - PAFAH1B1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.672-400A>C r.(=) p.(=) Unknown - likely benign g.2576954A>C - PAFAH1B1(NM_000430.4):c.672-400A>C - PAFAH1B1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.672-10A>C r.(=) p.(=) Unknown - benign g.2577344A>C g.2674050A>C PAFAH1B1(NM_000430.3):c.672-10A>C - PAFAH1B1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.680_681del r.(?) p.(Val227GlufsTer28) Unknown - pathogenic g.2577362_2577363del g.2674068_2674069del PAFAH1B1(NM_000430.3):c.679_680delCA (p.V227Efs*28) - PAFAH1B1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.693A>T r.(?) p.(Thr231=) Unknown - benign g.2577375A>T g.2674081A>T PAFAH1B1(NM_000430.3):c.693A>T (p.T231=) - PAFAH1B1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.699_700del r.(?) p.(His233GlnfsTer22) Unknown - pathogenic g.2577381_2577382del g.2674087_2674088del PAFAH1B1(NM_000430.3):c.699_700delCA (p.H233Qfs*22) - PAFAH1B1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.715dup r.(?) p.(Met239Asnfs*17) Parent #1 - pathogenic g.2577397dup g.2674104dup - - PAFAH1B1_000040 81 heterozygous, no homozygous; Clinindb (India) Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs587784284 Germline - 81/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 81 Mohammed Faruq
+/. - c.783G>A r.(?) p.(Trp261Ter) Unknown - pathogenic g.2577465G>A g.2674171G>A PAFAH1B1(NM_000430.3):c.783G>A (p.W261*) - PAFAH1B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829_831del r.(?) p.(His277del) Unknown - pathogenic g.2577511_2577513del g.2674217_2674219del PAFAH1B1(NM_000430.3):c.829_831delCAT (p.H277del) - PAFAH1B1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884A>G r.(?) p.(Glu295Gly) Unknown - VUS g.2577566A>G - PAFAH1B1(NM_000430.3):c.884A>G (p.(Glu295Gly)) - PAFAH1B1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.900+1G>C r.spl? p.? Unknown - pathogenic g.2577583G>C g.2674289G>C PAFAH1B1(NM_000430.3):c.900+1G>C - PAFAH1B1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.900+10A>G r.(=) p.(=) Unknown - likely benign g.2577592A>G - PAFAH1B1(NM_000430.3):c.900+10A>G - PAFAH1B1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940G>A r.(?) p.(Gly314Arg) Unknown - VUS g.2579838G>A - PAFAH1B1(NM_000430.3):c.940G>A (p.G314R) - PAFAH1B1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.955A>G r.(?) p.(Thr319Ala) Unknown - VUS g.2579853A>G - PAFAH1B1(NM_000430.4):c.955A>G (p.(Thr319Ala)) - PAFAH1B1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Leu334=) Unknown - likely benign g.2579900C>T - PAFAH1B1(NM_000430.3):c.1002C>T (p.L334=) - PAFAH1B1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1003-21A>G r.(=) p.(=) Unknown - benign g.2583437A>G g.2680143A>G PAFAH1B1(NM_000430.3):c.1003-21A>G - PAFAH1B1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1050del r.(?) p.(Lys351SerfsTer4) Unknown - pathogenic g.2583505del g.2680211del PAFAH1B1(NM_000430.3):c.1050delG (p.K351Sfs*4) - PAFAH1B1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1059T>C r.(?) p.(Ile353=) Unknown - likely benign g.2583514T>C g.2680220T>C PAFAH1B1(NM_000430.3):c.1059T>C (p.I353=) - PAFAH1B1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1077C>A r.(?) p.(Asp359Glu) Unknown - VUS g.2583532C>A - PAFAH1B1(NM_000430.3):c.1077C>A (p.(Asp359Glu)) - PAFAH1B1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1090G>A r.(?) p.(Val364Ile) Unknown - VUS g.2583545G>A - PAFAH1B1(NM_000430.3):c.1090G>A (p.(Val364Ile)) - PAFAH1B1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110G>A r.(?) p.(Lys370=) Unknown - likely benign g.2583565G>A g.2680271G>A PAFAH1B1(NM_000430.3):c.1110G>A (p.K370=) - PAFAH1B1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1111C>T r.(?) p.(Arg371Ter) Unknown - pathogenic g.2583566C>T g.2680272C>T PAFAH1B1(NM_000430.3):c.1111C>T (p.R371*) - PAFAH1B1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135C>A r.(?) p.(His379Asn) Unknown - VUS g.2583590C>A g.2680296C>A PAFAH1B1(NM_000430.3):c.1135C>A (p.H379N) - PAFAH1B1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1159+3A>T r.spl? p.? Unknown - pathogenic g.2583617A>T g.2680323A>T PAFAH1B1(NM_000430.3):c.1159+3A>T - PAFAH1B1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174G>A r.(?) p.(Ala392Thr) Unknown - VUS g.2585037G>A - PAFAH1B1(NM_000430.4):c.1174G>A (p.(Ala392Thr)) - PAFAH1B1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1208C>A r.(?) p.(Thr403Lys) Unknown - likely benign g.2585071C>A - PAFAH1B1(NM_000430.3):c.1208C>A (p.(Thr403Lys)) - PAFAH1B1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229G>A r.(?) p.(Arg410His) Unknown - VUS g.2585092G>A g.2681798G>A PAFAH1B1(NM_000430.3):c.1229G>A (p.R410H), PAFAH1B1(NM_000430.4):c.1229G>A (p.R410H) - PAFAH1B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229G>A r.(?) p.(Arg410His) Unknown - VUS g.2585092G>A - PAFAH1B1(NM_000430.3):c.1229G>A (p.R410H), PAFAH1B1(NM_000430.4):c.1229G>A (p.R410H) - PAFAH1B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17C>T r.(=) p.(=) Unknown - benign g.2585113C>T g.2681819C>T PAFAH1B1(NM_000430.3):c.*17C>T, PAFAH1B1(NM_000430.4):c.*17C>T - PAFAH1B1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17C>T r.(=) p.(=) Unknown - benign g.2585113C>T g.2681819C>T PAFAH1B1(NM_000430.3):c.*17C>T, PAFAH1B1(NM_000430.4):c.*17C>T - PAFAH1B1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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