Full data view for gene ASPM

Information The variants shown are described using the NM_018136.4 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.3978G>A r.(?) p.(Trp1326*) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kumar 2004 - - Germline - - - - - DNA SEQ - - microcephaly Fam5PatIV2 PubMed: Kumar 2004 4-generation family, 1 affected, unaffected heterozygous parents/relatives M yes India - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly MCP19 PubMed: Gul 2006 family - yes Pakistan Bannu - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly MCP20 PubMed: Gul 2006 family - yes Pakistan Bannu - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly MCP21 PubMed: Gul 2006 family - yes Pakistan Bannu - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly MCP22 PubMed: Gul 2006 family - yes Pakistan Bannu - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Gul 2007 - - Germline - - - - - DNA SEQ - - microcephaly MCP37 PubMed: Gul 2007 family, 7 affected - yes Pakistan Nowshera - - - - 7 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Gul 2007 - - Germline - - - - - DNA SEQ - - microcephaly MCP41 PubMed: Gul 2007 family, 3 affected - yes Pakistan Nowshera - - - - 3 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP51 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP54 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP55 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP58 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP60 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP61 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP74 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP76 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP82 PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Parent #1 - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Muhammad 2009 - - Germline - - - - - DNA SEQ - - microcephaly MCP35 PubMed: Muhammad 2009 5-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives - yes Pakistan - - - - - 6 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Muhammad 2009 - - Germline - - - - - DNA SEQ - - microcephaly MCP31 PubMed: Muhammad 2009 4-generation family, 6 affected (4F, 2M), unaffected heterozygous parents/relatives - yes Pakistan - - - - - 6 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Muhammad 2009 - - Germline - - - - - DNA SEQ - - microcephaly MCP32 PubMed: Muhammad 2009 7-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives - yes Pakistan - - - - - 4 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Muhammad 2009 - - Germline - - - - - DNA SEQ - - microcephaly MCP34 PubMed: Muhammad 2009 7-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives - yes Pakistan - - - - - 4 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP48 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP51 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP52 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP56 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP57 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP64 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP65 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Sajid Hussain 2013 - - Germline - - - - - DNA SEQ - - microcephaly MCP92 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP101 PubMed: Ahmad 2017 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 3 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP106 PubMed: Ahmad 2017 5-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 4 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP135 PubMed: Ahmad 2017 4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 2 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP137 PubMed: Ahmad 2017 6-generation family, 13 affected (7F, 6M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 13 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP138 PubMed: Ahmad 2017 4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 2 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP139 PubMed: Ahmad 2017 5-generation family, 5 affected (2F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 5 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP140 PubMed: Ahmad 2017 - - - Pakistan Pashtun - - - - 1 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Lys2837MetfsTer34) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP141 PubMed: Ahmad 2017 3-generation family, 6 affected (3F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 6 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Gln1987Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP143 PubMed: Ahmad 2017 4-generation family, 4 affected (4M), unaffected heterozygous parents/relatives M yes Pakistan Pashtun - - - - 4 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP174 PubMed: Ahmad 2017 5-generation family, 3 affected (3M), unaffected heterozygous parents/relatives M yes Pakistan Pashtun - - - - 3 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP175 PubMed: Ahmad 2017 3-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 3 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP176 PubMed: Ahmad 2017 6-generation family, 9 affected (5F, 4M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 9 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP177 PubMed: Ahmad 2017 4-generation family, 8 affected (5F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 8 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP178 PubMed: Ahmad 2017 4-generation family, 8 affected (4F, 4M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 8 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP187 PubMed: Ahmad 2017 4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives M yes Pakistan Pashtun - - - - 2 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Arg427Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP190 PubMed: Ahmad 2017 5-generation family, 2 affected (2F), unaffected heterozygous parents/relatives F yes Pakistan Pashtun - - - - 2 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP191 PubMed: Ahmad 2017 6-generation family, 3 affected (3M), unaffected heterozygous parents/relatives M yes Pakistan Pashtun - - - - 3 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam4 PubMed: Wang 2017 3-generation family, 6 affected (2F, 4M), unaffected heterozygous parents/relatives F;M no Pakistan - - - - - 6 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam6 PubMed: Wang 2017 2-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives F;M no Pakistan - - - - - 3 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam7 PubMed: Wang 2017 4-generation family, 4 affected (F, 3M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam8 PubMed: Wang 2017 3-generation family, 4 affected (2F, 2M), unaffected heterozygous parents/relatives F;M no Pakistan - - - - - 4 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Parent #1 - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam9 PubMed: Wang 2017 2-generation family, 4 affected (4M), unaffected heterozygous parents/relatives M no Pakistan - - - - - 4 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam10 PubMed: Wang 2017 5-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam12 PubMed: Wang 2017 3-generation family, 2 affected (2M), unaffected heterozygous parents/relatives M no Pakistan - - - - - 2 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam13 PubMed: Wang 2017 4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam24 PubMed: Wang 2017 4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam25 PubMed: Wang 2017 4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam26 PubMed: Wang 2017 4-generation family, 3 affected (3M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - 3 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam31 PubMed: Wang 2017 4-generation family, 2 affected (2M), unaffected heterozygous parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam40 PubMed: Wang 2017 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam44 PubMed: Wang 2017 3-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives3 F;M no Pakistan - - - - - 2 Johan den Dunnen
+/. 17 c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ - - microcephaly Fam45 PubMed: Wang 2017 4-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives3 F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam15 Journal: Paracha 2024 4-generation family, 4 affected (2F, 2M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Muhammad Umair
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam16 Journal: Paracha 2024 4-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 3 Muhammad Umair
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam17 Journal: Paracha 2024 5-generation family, 4 affected (F, 3M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Muhammad Umair
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam18 Journal: Paracha 2024 4-generation family, 5 affected (3F, 2M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Muhammad Umair
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam19 Journal: Paracha 2024 2-generation family, 2 affected brothers, heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Muhammad Umair
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam20 Journal: Paracha 2024 4-generation family, affected brother/sister, heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 2 Muhammad Umair
+/. - c.3978G>A r.(?) p.(Trp1326Ter) Both (homozygous) - pathogenic (recessive) g.197087006C>T g.197117876C>T - - ASPM_000277 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam21 Journal: Paracha 2024 2-generation family, 3 affected (2F, M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 2 Muhammad Umair
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