RGD:401863303 Rat Genome Database

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Variant: RGD:401863303 -  Homo sapiens

RGD ID: 401863303
ClinVar ID: CV2765725
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LSM14B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 60,704,961
GRCh38 20 62,129,905
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144703.3:c.548C>T
NC_000020.11:g.62129905C>T
NC_000020.10:g.60704961C>T
NM_144703.2:c.548C>T
More... 		06/30/2023 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LSM14B
Accession:XM_011528609
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVND
ENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVT
QSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRN
PTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528613
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQA
VQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPT
NVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFD
NISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_047439933
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQ
PVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNL
NAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKF
EGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTS
SRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_047439934
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQ
PVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNL
NAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKF
EGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTS
SRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_047439935
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRG
QNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKS
KSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528612
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIV
LFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPA
AVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEK
GEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRG
GRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_024451840
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIV
LFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPA
AVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEK
GEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRG
GRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_024451841
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQ
PVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAA
VQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKG
EEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGG
RGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528605
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREE
MERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRP
QRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEA
PAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHR
AGTGRV*

Gene Symbol:LSM14B
Accession:XM_024451839
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASGNRRTRNRSRGQNRPT
NVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFD
NISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528607
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREE
MERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASGNRRTRNRSRGQNRPTNVKEN
TIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSE
LKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:NM_144703
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLGAGFPSIPVGKSPMVEQA
VQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPT
NVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFD
NISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528606
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 258
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSS
PSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGS
ADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKEN
TIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSE
LKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528611
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLGAGFPSIPVGKSPMVEQA
VQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREE
LDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETF
GVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528608
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLL
PGKGTTGMQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDF
ESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTW
AEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_005260302
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSS
PSPQPVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGMQLNGRQAQPSSKTASDVV
QPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNRPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDK
AEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGG
FRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XR_936508
Location:EXON;NON-CODING

Gene Symbol:LSM14B
Accession:XR_936509
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004335730 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LSM14B CLINVAR
OMIM 620689 CLINVAR