Full data view for gene BHLHA9

Information The variants shown are described using the NM_001164405.1 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
Legend   How to query  

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     
+?/. _1_ c.1_708{2} r.(?) p.(=) Maternal (confirmed) - likely pathogenic (dominant) g.(?_1173858)_(1174565_?)dup g.(?_1270564)_(1271271_?)dup 1_708dup - BHLHA9_000014 duplication BHLHA9 gene PubMed: Paththinige 2019 - - Germline - - - - - DNA PCRq - - SHFM family PubMed: Paththinige 2019 2-generation family, affected mother/daughter F no Sri Lanka - - - - - 2 Johan den Dunnen
-?/. - c.44G>A r.(?) p.(Gly15Glu) Unknown - likely benign g.1173901G>A g.1270607G>A BHLHA9(NM_001164405.1):c.44G>A (p.(Gly15Glu)) - BHLHA9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.74del r.(?) p.(Gly25Alafs*55) Both (homozygous) - likely pathogenic (recessive) g.1173931del g.1270637del 74_74delG - BHLHA9_000013 - PubMed: Sedighzadeh 2021 - - Germline yes - - - - DNA SEQ-NG - WES MSSD family PubMed: Sedighzadeh 2021 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 2 Johan den Dunnen
-?/. - c.83C>T r.(?) p.(Pro28Leu) Unknown - likely benign g.1173940C>T - BHLHA9(NM_001164405.1):c.83C>T (p.(Pro28Leu)) - BHLHA9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>A r.(?) p.(Ala39Glu) Unknown - likely benign g.1173973C>A g.1270679C>A BHLHA9(NM_001164405.1):c.116C>A (p.(Ala39Glu)) - BHLHA9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124del r.(?) p.(Ala42Leufs*38) Unknown - VUS g.1173981del - BHLHA9(NM_001164405.1):c.124delG (p.(Ala42fs)) - BHLHA9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211A>G r.(?) p.(Asn71Asp) Both (homozygous) - pathogenic (recessive) g.1174068A>G g.1270774A>G - - BHLHA9_000015 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam1PatIV-7 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, 8 affected (3F, 5M), unaffected heterozygous carrier parents/relatives M yes Pakistan Punjab - - - - 8 Johan den Dunnen
+/. - c.211A>G r.(?) p.(Asn71Asp) Both (homozygous) - pathogenic (recessive) g.1174068A>G g.1270774A>G - - BHLHA9_000015 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam1PatIV-5 PubMed: Malik 2014, Journal: Malik 2014 - M yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/. - c.211A>G r.(?) p.(Asn71Asp) Both (homozygous) - pathogenic (recessive) g.1174068A>G g.1270774A>G - - BHLHA9_000015 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam1PatIV-1 PubMed: Malik 2014, Journal: Malik 2014 - F yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/. - c.211A>G r.(?) p.(Asn71Asp) Both (homozygous) - pathogenic (recessive) g.1174068A>G g.1270774A>G - - BHLHA9_000015 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam1PatIV-2 PubMed: Malik 2014, Journal: Malik 2014 - M yes Pakistan Punjab - - - - 1 Johan den Dunnen
+/. - c.211A>G r.(?) p.(Asn71Asp) Both (homozygous) - pathogenic (recessive) g.1174068A>G g.1270774A>G - - BHLHA9_000015 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline - - - - - DNA SEQ - - MSSD Fam6PatIII-4 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives2 M yes Pakistan KPK - - - - 2 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.1174075G>C g.1270781G>C - - BHLHA9_000016 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam2PatV-3 PubMed: Malik 2014, Journal: Malik 2014 5-generation family, 8 affected (F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 3 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.1174075G>C g.1270781G>C - - BHLHA9_000016 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam2PatV-1 PubMed: Malik 2014, Journal: Malik 2014 - M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.1174075G>C g.1270781G>C - - BHLHA9_000016 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam2PatIV-4 PubMed: Malik 2014, Journal: Malik 2014 - M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.1174075G>C g.1270781G>C - - BHLHA9_000016 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam3PatIV-2 PubMed: Malik 2014, Journal: Malik 2014 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives2 M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.1174075G>C g.1270781G>C - - BHLHA9_000016 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam3PatIV-4 PubMed: Malik 2014, Journal: Malik 2014 sister F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.218G>C r.(?) p.(Arg73Pro) Both (homozygous) - pathogenic (recessive) g.1174075G>C g.1270781G>C - - BHLHA9_000016 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline - - - - - DNA SEQ - - MSSD Fam5PatII-1 PubMed: Malik 2014, Journal: Malik 2014 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan Sindh - - - - 1 Johan den Dunnen
+?/. - c.220_221delinsTT r.(?) p.(Glu74Leu) Both (homozygous) - likely pathogenic (recessive) g.1174077_1174078delinsTT g.1270783_1270784delinsTT - - BHLHA9_000009 - PubMed: Phadke 2016 - - Germline - - - - - DNA SEQ - WES CCSPD patient PubMed: Phadke 2016 2-generation family, 2 affected (one fetus), unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
+/. - c.224G>T r.(?) p.(Arg75Leu) Both (homozygous) - pathogenic (recessive) g.1174081G>T g.1270787G>T - - BHLHA9_000017 - PubMed: Malik 2014, Journal: Malik 2014 - - Germline yes - - - - DNA SEQ - - MSSD Fam4PatIV-1 PubMed: Malik 2014, Journal: Malik 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Italy - - - - - 1 Johan den Dunnen
+/. - c.226A>T r.(?) p.(Lys76*) Paternal (confirmed) ACMG pathogenic (recessive) g.1174083A>T - - - BHLHA9_000011 - PubMed: Diaz-Gonzalez 2020 - - Germline - - - - - DNA SEQ - candidate gene panel MSSD patient PubMed: Diaz-Gonzalez 2020 - F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.252_270delinsGCA r.(?) p.(Phe85Glnfs*108) Both (homozygous) - likely pathogenic g.1174109_1174127delinsGCA g.1270815_1270833delinsGCA - - BHLHA9_000002 - PubMed: Ullah 2019 - - Germline yes - - - - DNA SEQ - - MSSD bd PubMed: Ullah 2019 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan SINDHI - - - - 3 Muhammad Umair
+?/. - c.269G>C r.(?) p.(Arg90Pro) Maternal (confirmed) ACMG likely pathogenic (recessive) g.1174126G>C - - - BHLHA9_000012 - PubMed: Diaz-Gonzalez 2020 - - Germline - - - - - DNA SEQ - candidate gene panel MSSD patient PubMed: Diaz-Gonzalez 2020 - F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.311T>C r.(?) p.(Ile104Thr) Both (homozygous) - likely pathogenic (recessive) g.1174168T>C g.1270874T>C - - BHLHA9_000010 - PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ - - MSSD - PubMed: Khan 2017 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 5 Johan den Dunnen
?/. - c.364C>G r.(?) p.(Arg122Gly) Unknown - VUS g.1174221C>G g.1270927C>G BHLHA9(NM_001164405.1):c.364C>G (p.(Arg122Gly)) - BHLHA9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.409del r.(?) p.(His137Thrfs*61) Both (homozygous) - pathogenic (recessive) g.1174266del g.1270972del 409-409delC - BHLHA9_000003 - PubMed: Khan 2019, Journal: Khan 2019 - - Germline yes - - - - DNA PCR DNA - ? BHLHA9 PubMed: Khan 2019, Journal: Khan 2019 5-generation family, 2 affected brothers M yes Pakistan - - - - - 2 Asmat Ullah
?/. - c.458dup r.(?) p.(Pro154Alafs*?) Unknown - VUS g.1174315dup - BHLHA9(NM_001164405.2):c.458dup (p.(Pro154Alafs*119)) - BHLHA9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475A>G r.(?) p.(Ser159Gly) Unknown - likely benign g.1174332A>G g.1271038A>G BHLHA9(NM_001164405.1):c.475A>G (p.(Ser159Gly)) - BHLHA9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559C>G r.(?) p.(Arg187Gly) Unknown - VUS g.1174416C>G g.1271122C>G BHLHA9(NM_001164405.1):c.559C>G (p.(Arg187Gly)) - BHLHA9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.631G>T r.(?) p.(Ala211Ser) Unknown - likely benign g.1174488G>T - BHLHA9(NM_001164405.1):c.631G>T (p.(Ala211Ser)) - BHLHA9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.