Full data view for gene SMPX

Information The variants shown are described using the NM_014332.2 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-13+171G>C r.(=) p.(=) Maternal (inferred) - VUS g.21775889C>G g.21757771C>G - - SMPX_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-13+171G>C r.(=) p.(=) Maternal (inferred) - VUS g.21775889C>G g.21757771C>G - - SMPX_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.29dup r.(?) p.(Asn10Lysfs*3) Unknown - pathogenic g.21772381dup - - - SMPX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.45+1G>A r.spl? p.? Unknown - pathogenic g.21772363C>T - - - SMPX_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.45+1G>C r.spl? p.? Unknown - pathogenic g.21772363C>G g.21754245C>G - - SMPX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3i c.(45+1_46-1)_(132+1_133-1)del r.? p.? Maternal (confirmed) - pathogenic g.(21755815_21761868)_(21761954_21772364)del g.(21737697_21743750)_(21743836_21754246)del - - SMPX_000009 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline yes - - - - DNA QMPSF, SEQ-NG-I - gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments deafness S1617 PubMed: Baux 2017, Journal: Baux 2017 Proband M no France - - - - - 1 David Baux
?/. 2 c.65T>A r.(?) p.(Met22Lys) Unknown - VUS g.21761935A>T g.21743817A>T - - SMPX_000006 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
?/. 2 c.65T>C r.(?) p.(Met22Thr) Unknown - VUS g.21761935A>G g.21743817A>G SMPX(NM_014332.3):c.65T>C (p.M22T) - SMPX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.89G>A r.(?) p.(Gly30Asp) Unknown - VUS g.21761911C>T g.21743793C>T SMPX(NM_014332.2):c.89G>A (p.(Gly30Asp)) - SMPX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89G>A r.(?) p.(Gly30Asp) Unknown - VUS g.21761911C>T - SMPX(NM_014332.2):c.89G>A (p.(Gly30Asp)) - SMPX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.99C>A r.(?) p.(Pro33=) Unknown - likely benign g.21761901G>T g.21743783G>T SMPX(NM_014332.3):c.99C>A (p.P33=) - SMPX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.99del r.(?) p.(Arg34Glufs*47) Parent #1 - pathogenic (dominant) g.21761906del g.21743788del 99delC - SMPX_000005 - PubMed: Abdelfatah 2013 - - Germline yes - - - - DNA SEQ - - HL Fam2024 PubMed: Abdelfatah 2013 6-generation family affected (22F, 17M) F;M - Canada - - - - - 39 Johan den Dunnen
+/. 2 c.99del r.(?) p.(Arg34Glufs*47) Parent #1 - pathogenic (dominant) g.21761906del g.21743788del 99delC - SMPX_000005 - PubMed: Abdelfatah 2013 - - Germline yes - - - - DNA SEQ - - HL Fam2196 PubMed: Abdelfatah 2013 5-generation family, 9 affected (3F, 6M) F;M - Canada - - - - - 9 Johan den Dunnen
+/. 3 c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic (dominant) g.21761891C>A g.21743773C>A - - SMPX_000018 - PubMed: Huebner 2011 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - target gene panel HL family PubMed: Huebner 2011 5-generation family, 15 affected (9F, 6M) F;M - Germany - - - - - 15 Johan den Dunnen
+/. 3 c.127G>T r.(?) p.(Glu43Ter) Both (homozygous) - pathogenic g.21761873C>A g.21743755C>A - - SMPX_000020 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. 3 c.130del r.(?) p.(Glu44Argfs*37) Parent #1 - pathogenic (dominant) g.21761871del g.21743753del 130delG - SMPX_000017 - PubMed: Schraders 2011 - - Germline yes - - - - DNA SEQ - - HL W05-049 PubMed: Schraders 2011 3-generation family, 4 affected (4M), unaffected carrier female M - Netherlands Antilles - - - - - 4 Johan den Dunnen
+?/. 3 c.132G>A r.spl? p.(?) Parent #1 - likely pathogenic g.21761868C>T g.21743750C>T - - SMPX_000004 possible splice mutation PubMed: Neveling 2013 - - Unknown ? - - - - DNA SEQ - - ? - PubMed: Neveling 2013 - - - - - - - - - 1 Marcel Nelen
?/. 3 c.132G>A r.spl? p.(?) Unknown - VUS g.21761868C>T g.21743750C>T - - SMPX_000004 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
-?/. 3 c.132G>A r.(?) p.(Glu44=) Unknown - likely benign g.21761868C>T g.21743750C>T SMPX(NM_014332.3):c.132G>A (p.E44=) - SMPX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.132G>A r.spl? p.(?) Parent #1 - likely pathogenic (dominant) g.21761868C>T g.21743750C>T - - SMPX_000004 - PubMed: Neveling 2013 - - Germline - - - - - DNA ? - - HL - PubMed: Neveling 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.132G>A r.(?) p.(Glu44=) Unknown - VUS g.21761868C>T - SMPX(NM_014332.3):c.132G>A (p.E44=) - SMPX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133-281A>T r.(=) p.(=) Maternal (inferred) - VUS g.21756096T>A g.21737978T>A - - SMPX_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.133-281A>T r.(=) p.(=) Maternal (inferred) - VUS g.21756096T>A g.21737978T>A - - SMPX_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. 3i c.133-1G>A r.spl p.? Paternal (confirmed) - likely pathogenic g.21755816C>T g.21737698C>T - - SMPX_000008 - - - - Germline yes - - - - DNA SEQ-NG-I - - deafness 02200 - - M no United States North American - - - - 3 N Cobbler
+/. 4 c.175G>T r.(?) p.(Gly59*) Parent #1 - pathogenic (dominant) g.21755773C>A - - - SMPX_000016 - PubMed: Huebner 2011 - - Germline yes - - - - DNA SEQ - - HL family PubMed: Huebner 2011, 4-generation family, affected (7F, 12M) F;M - Spain - - - - - 19 Johan den Dunnen
+/. 4 c.214G>T r.(?) p.(Glu72Ter) Unknown - pathogenic g.21755734C>A g.21737616C>A - - SMPX_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.214G>T r.(?) p.(Glu72*) Parent #1 - pathogenic (dominant) g.21755734C>A g.21737616C>A - - SMPX_000012 - PubMed: Schraders 2011, PubMed: Weegerink 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL W08-1701 PubMed: Schraders 2011, PubMed: Weegerink 2011 4-generation family, affected (14F, 11M) F;M - Netherlands - - - - - 25 Johan den Dunnen
+/. 4 c.217dupA r.(?) p.(Ile73Asnfs*5) Unknown - pathogenic g.21755733dup g.21737615dup - - SMPX_000007 - - - - De novo yes - - - - DNA SEQ-NG-I - - SNHL - - - - - China - - - - - 1 Zhijie Niu
+/. 4 c.262C>G r.(?) p.(Gln88Glu) Paternal (inferred) - pathogenic (dominant) g.21755686G>C g.21737568G>C - - SMPX_000022 - PubMed: Guo 2021, Journal: Guo 2021 - - Germline yes - - - - DNA SEQ - WES HL FamPatII2 PubMed: Guo 2021, Journal: Guo 2021 4-generation family, 6 affected (3F, 3M) F no China - - - - - 6 Johan den Dunnen
+/. 4 c.262C>G r.(?) p.(Gln88Glu) Maternal (confirmed) - pathogenic (dominant) g.21755686G>C g.21737568G>C - - SMPX_000022 - PubMed: Guo 2021, Journal: Guo 2021 - - Germline yes - - - - DNA SEQ - - HL FamPatIII3 PubMed: Guo 2021, Journal: Guo 2021 son of PatII2 M no China - - - - - 1 Johan den Dunnen
+/. 4 c.262C>G r.(?) p.(Gln88Glu) Maternal (confirmed) - pathogenic (dominant) g.21755686G>C g.21737568G>C - - SMPX_000022 - PubMed: Guo 2021, Journal: Guo 2021 - - Germline yes - - - - DNA SEQ - - HL FamPatIV1 PubMed: Guo 2021, Journal: Guo 2021 son of PatIII2 M no China - - - - - 1 Johan den Dunnen
+/. 4 c.262C>G r.(?) p.(Gln88Glu) Paternal (confirmed) - pathogenic (dominant) g.21755686G>C g.21737568G>C - - SMPX_000022 - PubMed: Guo 2021, Journal: Guo 2021 - - Germline yes - - - - DNA SEQ - - HL FamPatIV2 PubMed: Guo 2021, Journal: Guo 2021 daughter of PatIII2 F no China - - - - - 1 Johan den Dunnen
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