Full data view for gene SFTPA1

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

17 entries on 1 page. Showing entries 1 - 17.
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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.-24+19A>G r.(=) p.(=) Unknown - benign g.81371164A>G - SFTPA1(NM_005411.5):c.-24+19A>G - SFTPA1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-23-168G>A r.(=) p.(=) Unknown - VUS g.81371391G>A - SFTPA1(NM_005411.5):c.-23-168G>A - SFTPA1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14C>T r.(?) p.(Pro5Leu) Unknown - likely benign g.81371595C>T g.79611839C>T SFTPA1(NM_005411.4):c.14C>T (p.P5L) - SFTPA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135C>T r.(?) p.(Asp45=) Unknown - likely benign g.81371716C>T g.79611960C>T SFTPA1(NM_005411.4):c.135C>T (p.D45=) - SFTPA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148C>G r.(?) p.(Leu50Val) Unknown - benign g.81371729C>G g.79611973C>G SFTPA1(NM_005411.5):c.148C>G (p.L50V) - SFTPA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185C>T r.(?) p.(Pro62Leu) Unknown - likely benign g.81372080C>T g.79612324C>T SFTPA1(NM_005411.4):c.185C>T (p.P62L), SFTPA1(NM_005411.5):c.185C>T (p.P62L) - SFTPA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185C>T r.(?) p.(Pro62Leu) Unknown - VUS g.81372080C>T - SFTPA1(NM_005411.4):c.185C>T (p.P62L), SFTPA1(NM_005411.5):c.185C>T (p.P62L) - SFTPA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256G>A r.(?) p.(Gly86Arg) Both (homozygous) - VUS g.81372151G>A g.79612395G>A - - SFTPA1_000007 variant segregating with clinical phenotype PubMed: Dias 2019 - - Germline yes - - - - DNA SEQ-NG - WES ID Fam2PatIV1 PubMed: Dias 2019 - M yes Iran - - - - - 3 Caroline Dias
-?/. - c.271C>G r.(?) p.(Pro91Ala) Unknown - likely benign g.81372166C>G g.79612410C>G SFTPA1(NM_001093770.2):c.316C>G (p.(Pro106Ala)) - SFTPA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344G>T r.(?) p.(Arg115Ile) Unknown - VUS g.81372996G>T g.79613240G>T SFTPA1(NM_005411.4):c.344G>T (p.R115I) - SFTPA1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.371-19C>T r.(=) p.(=) Unknown - likely benign g.81373474C>T - SFTPA1(NM_005411.5):c.371-19C>T - SFTPA1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.382C>T r.(?) p.(Gln128Ter) Unknown - likely pathogenic g.81373504C>T g.79613748C>T SFTPA1(NM_005411.4):c.382C>T (p.Q128*) - SFTPA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.532G>A r.(?) p.(Val178Met) Maternal (confirmed) - likely pathogenic g.81373654G>A g.79613898G>A - - SFTPA1_000010 - PubMed: Doubkova 2019 - rs1215316727 Germline yes - - - - DNA SEQ, SEQ-NG-I - - IPF - PubMed: Doubkova 2019 - M no Czech Republic - 57y - - - 1 Joanne van der Vis
?/. 6 c.560T>C r.(?) p.(Val187Ala) Unknown - VUS g.81373682T>C g.79613926T>C - - SFTPA1_000011 - PubMed: Pradipkumar 2017 - - Unknown ? - - - - DNA SEQ, SEQ-NG-I - - IPF - PubMed: Pradipkumar 2017 - M ? India - >46y - - - 1 Joanne van der Vis
+/. 6 c.622T>C r.(?) p.(Tyr208His) Both (homozygous) - VUS g.81373744T>C g.79613988T>C - - SFTPA1_000012 - PubMed: Takezaki - - Germline ? - - - - DNA SEQ-NG-I - - IPF - PubMed: Takezaki 2019 - M yes Japan - 32y - - - 1 Joanne van der Vis
+/. 6 c.631T>C r.(?) p.(Trp211Arg) Maternal (inferred) - VUS g.81373753T>C g.79613997T>C - - SFTPA1_000009 - - - - Germline yes - - - - DNA SEQ - - IPF - PubMed: Nathan 2016 - M no France - >53y - see report - 2 Joanne van der Vis
+/. 6 c.631T>C r.(?) p.(Trp211Arg) Maternal (inferred) - VUS g.81373753T>C g.79613997T>C - - SFTPA1_000009 - PubMed: Nathan 2016 - - Germline - - - - - DNA SEQ - - IPF - PubMed: Nathan 2016 - F - France - >58y - - - 1 Joanne van der Vis
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