RGD:243057400 Rat Genome Database

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Variant: RGD:243057400 -  Homo sapiens

RGD ID: 243057400
ClinVar ID: CV2412037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 24,738,695
GRCh38 7 24,699,076
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1428t1:c.1441C>A
NM_001127454.2:c.949C>A
NC_000007.14:g.24699076G>T
NC_000007.13:g.24738695G>T
More... 		02/15/2020 missense variant uncertain significance Deafness, autosomal dominant 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127454
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGF
ENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELL
MVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALL
GTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLICIT
LNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_004403
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
ICITLNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_001127453
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
ICITLNGLCALGREHS*

Gene Symbol:GSDME
Accession:XM_017011802
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGF
ENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELL
MVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALL
GTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLICIT
LNGLCALGREHS*

Gene Symbol:GSDME
Accession:XM_024446670
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 481
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
ICITLNGLCALGREHS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003146050 CLINVAR
MedGen C1832932 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR