Full data view for gene SSBP1

Information The variants shown are described using the NM_003143.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.3G>A r.? p.(Met1?) Unknown ACMG VUS g.141438969G>A g.141739169G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatII9 PubMed: Kullar 2018 sister F ? Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (inferred) - VUS g.141438969G>A g.141739169G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII2 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (inferred) ACMG VUS g.141438969G>A g.141739169G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII6 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (inferred) ACMG VUS g.141438969G>A g.141739169G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII10 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Paternal (inferred) - VUS g.141438969G>A g.141739169G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII11 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Unknown - pathogenic g.141438969G>A g.141739169G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatII3 PubMed: Kullar 2018 large 4-generation family of 46, 19 affected (6F, 13M) M ? Finland - - - - - 19 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Parent #1 - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII5 PubMed: Kullar 2018 relative F no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Parent #1 - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII9 PubMed: Kullar 2018 relative F no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIV2 PubMed: Kullar 2018 relative F no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIV4 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIV5 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIV6 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamBPatII2 PubMed: Kullar 2018 relative F no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamBPatII3 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamAPatIII8 PubMed: Kullar 2018 relative F no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamBPatIV3 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamBPatIV6 PubMed: Kullar 2018 relative M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamBPatIV7 PubMed: Kullar 2018 relative M - Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Maternal (confirmed) - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamBPatIV9 PubMed: Kullar 2018 relative M - Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Parent #1 - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial Family D/Pt I:1 PubMed: Kullar 2018 - M no Finland - - - - - 1 Mohamed Selhane
+/. - c.3G>A r.? p.(Met1?) Parent #1 - VUS g.141438969G>A g.141438969G>A - - SSBP1_000015 - PubMed: Kullar 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness, nonsyndromic sensorineural, mitochondrial FamEPatI1 PubMed: Kullar 2018 - M no Finland - - - - - 1 Mohamed Selhane
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