Full data view for gene SLC16A1

Information The variants shown are described using the NM_003051.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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     
-?/. - c.362-21A>C r.(=) p.(=) Unknown - likely benign g.113460687T>G g.112918065T>G - - SLC16A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.362-17A>C r.(=) p.(=) Unknown - benign g.113460683T>G g.112918061T>G SLC16A1(NM_003051.3):c.362-17A>C - SLC16A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.362-17A>C r.(=) p.(=) Unknown - benign g.113460683T>G g.112918061T>G SLC16A1(NM_003051.3):c.362-17A>C - SLC16A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.362-14_362-11del r.(=) p.(=) Unknown - likely benign g.113460722_113460725del g.112918100_112918103del SLC16A1(NM_003051.3):c.362-14_362-11delTATT - SLC16A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.362-14_362-11dup r.(=) p.(=) Unknown - likely benign g.113460722_113460725dup - SLC16A1(NM_001166496.1):c.362-14_362-11dupTATT - SLC16A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441C>T r.(?) p.(Asn147=) Unknown - likely benign g.113460587G>A - SLC16A1(NM_001166496.1):c.441C>T (p.N147=) - SLC16A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490dup r.(?) p.(Leu164ProfsTer46) Unknown - VUS g.113460543dup g.112917921dup - - SLC16A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.587G>A r.(?) p.(Arg196Gln) Unknown - VUS g.113460441C>T g.112917819C>T SLC16A1(NM_001166496.1):c.587G>A (p.R196Q) - SLC16A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.718C>G r.(?) p.(Gln240Glu) Unknown - likely benign g.113460310G>C - SLC16A1(NM_001166496.1):c.718C>G (p.Q240E) - SLC16A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1040C>A r.(?) p.(Ala347Glu) Unknown - VUS g.113459988G>T - SLC16A1(NM_003051.3):c.1040C>A (p.A347E) - SLC16A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070G>A r.(?) p.(Cys357Tyr) Unknown - VUS g.113459958C>T - SLC16A1(NM_001166496.1):c.1070G>A (p.C357Y) - SLC16A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259A>G r.(?) p.(Lys420Arg) Unknown - VUS g.113456757T>C - SLC16A1(NM_001166496.1):c.1259A>G (p.K420R) - SLC16A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337G>A r.(?) p.(Arg446Gln) Unknown - VUS g.113456679C>T - SLC16A1(NM_003051.3):c.1337G>A (p.R446Q) - SLC16A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1470T>A r.(?) p.(Asp490Glu) Unknown - benign g.113456546A>T g.112913924A>T SLC16A1(NM_003051.3):c.1470T>A (p.D490E) - SLC16A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1470T>A r.(?) p.(Asp490Glu) Unknown - benign g.113456546A>T g.112913924A>T SLC16A1(NM_003051.3):c.1470T>A (p.D490E) - SLC16A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*145T>G r.(=) p.(=) Parent #1 - likely benign g.113456368A>C g.112913746A>C - - SLC16A1_000006 78 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11585690 Germline - 78/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 78 Mohammed Faruq
-?/. - c.*145T>G r.(=) p.(=) Both (homozygous) - likely benign g.113456368A>C g.112913746A>C - - SLC16A1_000006 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11585690 Germline - 2/2791 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
Legend   How to query