RGD:152984028 Rat Genome Database

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Variant: RGD:152984028 -  Homo sapiens

RGD ID: 152984028
RS ID: rs1789294176
ClinVar ID: CV1672741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 24,749,872
GRCh38 7 24,710,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1428t1:c.833A>C
NM_001127454.2:c.341A>C
NM_001127453.2:c.833A>C
NM_004403.3:c.833A>C
More... 		10/20/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:XM_017011802
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGF
ENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSPDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELL
MVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALL
GTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCIT
LNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_004403
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSPDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS*

Gene Symbol:GSDME
Accession:XM_024446670
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSPDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_001127454
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 114
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGF
ENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSPDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELL
MVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALL
GTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCIT
LNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_001127453
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSPDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002238381 CLINVAR
dbSNP (RS) rs1789294176 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GSDME CLINVAR
OMIM 608798 CLINVAR