RGD:11547357 Rat Genome Database

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Variant: RGD:11547357 -  Homo sapiens

RGD ID: 11547357
RS ID: rs149249456
ClinVar ID: CV255226
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPB42  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 43,512,935
GRCh38 15 43,220,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.43220737C>T
NC_000015.9:g.43512935C>T
NP_000110.2:p.Ser30Asn
NG_011505.2:g.10120G>A
More... 		02/05/2021 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; EPB42-Related Spherocytosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPB42
Accession:XM_011521353
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGEPSQRSTGLAGLYAAPAASPVFIKGNGMDALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVR
AFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLL
LGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQLHFLKEQRVLPTPQTQATQEGALLNKR
RGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVTTFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWI
FQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLE
LTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLERVEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSL
PLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKKLHLTLSANLEKIITIGLFFSNFERNPPENTFLRLT
AMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSLQNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPE
NTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELSA*

Gene Symbol:EPB42
Accession:XM_011521351
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGEPSQRSTGLAGLYAAPAASPVFIKGNGMDALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVR
AFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLL
LGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVH
VARVLGALLHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVT
TFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRA
VKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLER
VEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKK
LHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSL
QNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELS
A*

Gene Symbol:EPB42
Accession:XM_011521352
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGEPSQRSTGLAGLYAAPAASPVFIKGNGMDALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVR
AFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLL
LEDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVHVARVLGALLHFL
KEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVTTFASAQGTGGRL
LIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGTLGLTPAV
SDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLERVEKEKMEREKDN
GIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKKLHLTLSANLEKI
ITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSLQNSLDAPMEDCV
ISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELSA*

Gene Symbol:EPB42
Accession:XM_011521350
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGEPSQRSTGLAGLYAAPAASPVFIKGNGMDALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVR
AFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLL
LGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVH
VARVLGALLHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVT
TFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRA
VKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLER
VEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKK
LHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSL
QNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELS
A*

Gene Symbol:EPB42
Accession:NM_000119
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGQGEPSQRSTGLAGLYAAPAASPVFIKGNGMDALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVR
AFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLL
LGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVH
VARVLGALLHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVT
TFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRA
VKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLER
VEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKK
LHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSL
QNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELS
A*

Gene Symbol:EPB42
Accession:NM_001114134
Location:INTRON

Gene Symbol:EPB42
Accession:XM_005254225
Location:INTRON

Gene Symbol:EPB42
Accession:XM_011521354
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000247648 CLINVAR
  RCV000909752 CLINVAR
  RCV001116918 CLINVAR
dbSNP (RS) rs149249456 CLINVAR
MedGen C2675192 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene EPB42 CLINVAR
OMIM 177070 CLINVAR
  612690 CLINVAR