Unique variants in the SLC16A1 gene

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.76G>C r.(?) p.(Ala26Pro) - VUS g.113471855C>G - - - SLC16A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.362-21A>C r.(=) p.(=) - likely benign g.113460687T>G g.112918065T>G - - SLC16A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.362-17A>C r.(=) p.(=) - benign g.113460683T>G g.112918061T>G SLC16A1(NM_001166496.1):c.362-17A>C - SLC16A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.362-14_362-11del r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.362-14_362-11dup r.(=) p.(=) - likely benign g.113460722_113460725dup - SLC16A1(NM_001166496.1):c.362-14_362-11dupTATT - SLC16A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.441C>T r.(?) p.(Asn147=) - likely benign g.113460587G>A - SLC16A1(NM_001166496.1):c.441C>T (p.N147=) - SLC16A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.490dup r.(?) p.(Leu164ProfsTer46) - VUS g.113460543dup g.112917921dup - - SLC16A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.587G>A r.(?) p.(Arg196Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.718C>G r.(?) p.(Gln240Glu) - likely benign g.113460310G>C - SLC16A1(NM_001166496.1):c.718C>G (p.Q240E) - SLC16A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.961A>G r.(?) p.(Asn321Asp) - VUS g.113460067T>C - - - SLC16A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1040C>A r.(?) p.(Ala347Glu) - VUS g.113459988G>T - SLC16A1(NM_003051.4):c.1040C>A (p.A347E) - SLC16A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1070G>A r.(?) p.(Cys357Tyr) - VUS g.113459958C>T - SLC16A1(NM_001166496.1):c.1070G>A (p.C357Y) - SLC16A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1259A>G r.(?) p.(Lys420Arg) - VUS g.113456757T>C - SLC16A1(NM_001166496.1):c.1259A>G (p.K420R) - SLC16A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1337G>A r.(?) p.(Arg446Gln) - VUS g.113456679C>T - SLC16A1(NM_003051.4):c.1337G>A (p.R446Q) - SLC16A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.1470T>A r.(?) p.(Asp490Glu) - benign g.113456546A>T g.112913924A>T SLC16A1(NM_001166496.1):c.1470T>A (p.D490E) - SLC16A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 2 - c.*145T>G r.(=) p.(=) - likely benign g.113456368A>C g.112913746A>C - - SLC16A1_000006 2 homozygous; Clinindb (India), 78 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11585690 Germline - 2/2791 individuals, 78/2791 individuals - - - Mohammed Faruq
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