RGD:156011582 Rat Genome Database

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Variant: RGD:156011582 -  Homo sapiens

RGD ID: 156011582
ClinVar ID: CV2291159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FCMR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 207,083,602
GRCh38 1 206,910,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001392791.1:p.Leu296Pro
NM_001405888.1:c.344T>C
NM_001142473.2:c.458T>C
NM_001193338.2:c.711-389T>C
More... 		08/17/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FCMR
Accession:NM_001405891
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSR
ASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLPALLGLVV
KRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGV*

Gene Symbol:FCMR
Accession:XM_047434331
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWYRGIHHQLHQGRIQGPSYSEAIPTQESVPSGEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGK
VPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQG
FHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTG
EAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001142473
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSR
ASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLPALLGLVV
KRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSES
PWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405867
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ
YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV
TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD
YGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR
RARGADAAGV*

Gene Symbol:FCMR
Accession:XM_047434334
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ
YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV
TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD
YGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKGGPADWP*

Gene Symbol:FCMR
Accession:NM_001405886
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVT
RVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDY
GSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRR
ARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405871
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ
YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV
TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD
YGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR
RARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405862
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLC
REMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPS
WEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTT
ASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRL
AVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSL
YHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405866
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ
YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV
TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD
YGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVS
LYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405868
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ
YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV
TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD
YGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR
RARGADAAGV*

Gene Symbol:FCMR
Accession:NM_001405888
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHH
TRLHRQRALDYGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRS
QNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA
*

Gene Symbol:FCMR
Accession:NM_005449
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ
YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV
TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD
YGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR
RARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405863
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLC
REMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPS
WEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTT
ASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLPALLGLVVKRAVERRKALSRRARRL
AVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSL
YHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405887
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSR
ASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHILIPTILGLFLPALLGLVV
KRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSES
PWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:FCMR
Accession:NM_001405890
Location:INTRON

Gene Symbol:FCMR
Accession:NM_001405864
Location:INTRON

Gene Symbol:FCMR
Accession:NM_001405892
Location:INTRON

Gene Symbol:FCMR
Accession:NM_001193338
Location:INTRON

Gene Symbol:FCMR
Accession:NM_001405865
Location:INTRON

Gene Symbol:FCMR
Accession:NM_001405889
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004153463 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FCMR CLINVAR
OMIM 606015 CLINVAR