Full data view for gene SFTPB

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

18 entries on 1 page. Showing entries 1 - 18.
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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.5A>C r.(?) p.(His2Pro) Unknown - benign g.85895338T>G g.85668215T>G SFTPB(NM_000542.5):c.-32A>C - SFTPB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.232-8C>A r.(=) p.(=) Unknown - benign g.85894308G>T g.85667185G>T SFTPB(NM_000542.5):c.196-8C>A - SFTPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397C>G r.(?) p.(Pro133Ala) Unknown - pathogenic g.85893772G>C - SFTPB(NM_198843.3):c.361C>G (p.P121A) - SFTPB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397_398insAA r.(?) p.(Pro133Glnfs*95) Unknown - pathogenic g.85893771_85893772insTT - SFTPB(NM_198843.2):c.397_398insAA (p.P133Qfs*95), SFTPB(NM_198843.3):c.361_362insAA (p.P121Qfs*95) - SFTPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397_398insAA r.(?) p.(Pro133Glnfs*95) Unknown - pathogenic g.85893771_85893772insTT - SFTPB(NM_198843.2):c.397_398insAA (p.P133Qfs*95), SFTPB(NM_198843.3):c.361_362insAA (p.P121Qfs*95) - SFTPB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.428C>T r.(?) p.(Thr143Ile) Unknown - benign g.85893741G>A g.85666618G>A SFTPB(NM_000542.5):c.392C>T (p.T131I) - SFTPB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.439G>A r.(?) p.(Gly147Ser) Unknown - VUS g.85892908C>T g.85665785C>T - - SFTPB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.439G>A r.(?) p.(Gly147Ser) Unknown - likely benign g.85892908C>T - SFTPB(NM_198843.2):c.439G>A (p.G147S) - SFTPB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.612C>T r.(?) p.(His204=) Unknown - likely benign g.85892735G>A - SFTPB(NM_198843.2):c.612C>T (p.H204=) - SFTPB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.618G>A r.spl p.? Unknown ACMG pathogenic g.85892729C>T g.85665606C>T - - SFTPB_000011 Alters splicing (mini-gene assay) Accepted in European Journal of Human Genetics - - Germline yes - - - - RNA SEQ Blood - SMDP1 father Accepted manuscript in European Journal of Human Genetics - M yes France - >59y - - - 2 Marie Legendre
+/. 6 c.618G>A r.spl p.? Paternal (confirmed) ACMG pathogenic g.85892729C>T g.85665606C>T - - SFTPB_000011 - Accepted manuscript in European Journal of Human Genetics - - Germline yes - - - - RNA SEQ Blood - SMDP1 - Accepted manuscript in European Journal of Human Genetics Son of 17GM02222 (individual 00435123) M yes France - >26y - - - 1 Marie Legendre
-/. - c.892+16A>C r.(=) p.(=) Unknown - benign g.85890771T>G g.85663648T>G SFTPB(NM_000542.5):c.856+16A>C - SFTPB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892+16A>C r.(=) p.(=) Parent #1 - benign g.85890771T>G g.85663648T>G - - SFTPB_000002 223 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205634 Germline - 223/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 223 Mohammed Faruq
-/. - c.892+16A>C r.(=) p.(=) Both (homozygous) - benign g.85890771T>G g.85663648T>G - - SFTPB_000002 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205634 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-/. - c.892+16del r.(=) p.(=) Parent #1 - benign g.85890771del g.85663648del - - SFTPB_000006 223 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205634 Germline - 223/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 223 Mohammed Faruq
-/. - c.892+16del r.(=) p.(=) Both (homozygous) - benign g.85890771del g.85663648del - - SFTPB_000006 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205634 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.1158G>A r.(?) p.(=) Unknown - VUS g.85888620C>T - - - SFTPB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1172C>G r.(?) p.(Pro391Arg) Unknown - VUS g.85888606G>C - SFTPB(NM_198843.2):c.1172C>G (p.P391R) - SFTPB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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