RGD:156125417 Rat Genome Database

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Variant: RGD:156125417 - Homo sapiens

RGD ID:

156125417

ClinVar ID:

CV2350190

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FCMR

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	207,083,636
GRCh38	1	206,910,291

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001405888.1:c.310A>T NM_001142473.2:c.424A>T NM_001405887.1:c.424A>T NM_001405891.1:c.424A>T More...	02/17/2022	intron variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	FCMR
Accession:	NM_001405867
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD YGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR RARGADAAGV*

Gene Symbol:	FCMR
Accession:	NM_001405862
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLC REMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPS WEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTT ASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRL AVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSL YHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001405888
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHH TRLHRQRALDYGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRS QNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA *

Gene Symbol:	FCMR
Accession:	XM_047434331
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	163

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWYRGIHHQLHQGRIQGPSYSEAIPTQESVPSGEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGK VPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQG FHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTG EAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001405887
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSR ASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHFLIPTILGLFLLALLGLVV KRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSES PWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001405886
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	173

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVT RVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDY GSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRR ARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_005449
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD YGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR RARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	XM_047434334
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD YGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKGGPADWP*

Gene Symbol:	FCMR
Accession:	NM_001405871
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD YGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR RARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001405891
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSR ASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHFLIPTILGLFLLALLGLVV KRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGV*

Gene Symbol:	FCMR
Accession:	NM_001405866
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD YGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVS LYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001405863
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPEMESCCVAQDGLELVALSDPPGSASQSAGITVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLC REMAGSGTCGTVVSTTNFIKAEYKGRVTLKQYPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPS WEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTT ASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRL AVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSESPWLHAPSLKTSCEYVSL YHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001142473
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFVTRVTTPAQRGKVPPVHHSSPTTQITHRPRVSR ASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALDYGSQSGREGQGFHFLIPTILGLFLLALLGLVV KRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPRRARGADAAGTGEAPVPGPGAPLPPAPLQVSES PWLHAPSLKTSCEYVSLYHQPAAMMEDSDSDDYINVPA*

Gene Symbol:	FCMR
Accession:	NM_001405868
Location:	EXON
Amino Acid Prediction:	I to F (nonsynonymous)
Amino Acid Position:	254

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFWLWPLYFLPVSGALRILPEVKVEGELGGSVTIKCPLPEMHVRIYLCREMAGSGTCGTVVSTTNFIKAEYKGRVTLKQ YPRKNLFLVEVTQLTESDSGVYACGAGMNTDRGKTQKVTLNVHSEYEPSWEEQPMPETPKWFHLPYLFQMPAYASSSKFV TRVTTPAQRGKVPPVHHSSPTTQITHRPRVSRASSVAGDKPRTFLPSTTASKISALEGLLKPQTPSYNHHTRLHRQRALD YGSQSGREGQGFHFLIPTILGLFLLALLGLVVKRAVERRKALSRRARRLAVRMRALESSQRPRGSPRPRSQNNIYSACPR RARGADAAGV*

Gene Symbol:	FCMR
Accession:	NM_001405890
Location:	INTRON

Gene Symbol:	FCMR
Accession:	NM_001405865
Location:	INTRON

Gene Symbol:	FCMR
Accession:	NM_001405892
Location:	INTRON

Gene Symbol:	FCMR
Accession:	NM_001405864
Location:	INTRON

Gene Symbol:	FCMR
Accession:	NM_001405889
Location:	INTRON

Gene Symbol:	FCMR
Accession:	NM_001193338
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004200104	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	FCMR	CLINVAR
OMIM	606015	CLINVAR

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156125417 - Homo sapiens