RGD:9689503 Rat Genome Database

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Variant: RGD:9689503 -  Homo sapiens

RGD ID: 9689503
RS ID: rs140666247
ClinVar ID: CV174088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 24,756,912
GRCh38 7 24,717,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011593.1:g.45728G>A
NC_000007.14:g.24717293C>T
NC_000007.13:g.24756912C>T
NP_004394.1:p.Gly220Ser
More... 		02/15/2019 missense variant benign|likely benign AllHighlyPenetrant; Deafness, autosomal dominant 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:NM_001127454
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYSVIELYVKLDGQFEFCLLRGKQGGF
ENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELL
MVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALL
GTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCIT
LNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_004403
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYSVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS*

Gene Symbol:GSDME
Accession:NM_001127453
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYSVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS*

Gene Symbol:GSDME
Accession:XM_017011802
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYSVIELYVKLDGQFEFCLLRGKQGGF
ENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELL
MVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALL
GTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCIT
LNGLCALGREHS*

Gene Symbol:GSDME
Accession:XM_024446670
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKY
EGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQ
KITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYSVIELYVKLDGQFEFCLLRGK
QGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFD
DELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSA
AALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLL
LCITLNGLCALGREHS*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000155077 CLINVAR
  RCV000274170 CLINVAR
  RCV000952918 CLINVAR
dbSNP (RS) rs140666247 CLINVAR
MedGen C1832932 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DFNA5 CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR