RGD:156238816 Rat Genome Database

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Variant: RGD:156238816 -  Homo sapiens

RGD ID: 156238816
ClinVar ID: CV2356291
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LSM14B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 60,705,625
GRCh38 20 62,130,569
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.713G>A
NC_000020.11:g.62130569G>A
NC_000020.10:g.60705625G>A
NM_144703.2:c.713G>A
More... 		10/29/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LSM14B
Accession:NM_144703
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLGAGFPSIPVGKSPMVEQA
VQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPT
NVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFD
NISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_005260302
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSS
PSPQPVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVV
QPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDK
AEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGG
FRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528607
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREE
MERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASGNRRTRNRSRGQNHPTNVKEN
TIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSE
LKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528605
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREE
MERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRP
QRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEA
PAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHR
AGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528608
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLL
PGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDF
ESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTW
AEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528606
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSS
PSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGS
ADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKEN
TIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSE
LKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528611
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLGAGFPSIPVGKSPMVEQA
VQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREE
LDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETF
GVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528609
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVND
ENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVT
QSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRN
PTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528613
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQA
VQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPT
NVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFD
NISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_011528612
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIV
LFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPA
AVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEK
GEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRG
GRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_024451839
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGSSGTPYLGSKISLISKAQIRYEGILYTIDTDNSTVALAKVRSFGTEDRPTDRPAPPREEIYEYIIFRGSDIKDITVC
EPPKAQHTLPQDPAIVQLNKRPDEGVRGDGMAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQ
QYAASLGLGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASGNRRTRNRSRGQNHPT
NVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFD
NISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_024451840
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQPVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIV
LFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPA
AVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEK
GEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRG
GRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_024451841
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQ
PVSELDLSSEPQQLTAKGAGFPSIPVGKSPMVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAA
VQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKG
EEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGG
RGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_047439933
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQ
PVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNL
NAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKF
EGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTS
SRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_047439934
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFAVLTRCLVVQSSLGSASASPFQPHVPYSPFRGMAPYGPLAASSLLSQQYAASLGLEKLVSPPASAAASSPSSSPSPQ
PVSELDLSSEPQQLTAKGCLFCFRSLFTYTQSHIVLFRVPTGPGTLEREEMERGAGFPSIPVGKSPMVEQAVQTGSADNL
NAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRGQNHPTNVKENTIKF
EGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKSKSFFDNISSELKTS
SRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

Gene Symbol:LSM14B
Accession:XM_047439935
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVEQAVQTGSADNLNAKKLLPGKGTTGTQLNGRQAQPSSKTASDVVQPAAVQAQGQVNDENRRPQRRRSGNRRTRNRSRG
QNHPTNVKENTIKFEGDFDFESANAQFNREELDKEFKKKLNFKDDKAEKGEEKDLAVVTQSAEAPAEEDLLGPNCYYDKS
KSFFDNISSELKTSSRRTTWAEERKLNTETFGVSGRFLRGRSSRGGFRGGRGNGTTRRNPTSHRAGTGRV*

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 RCV004206101 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LSM14B CLINVAR
OMIM 620689 CLINVAR