RGD:126755857 Rat Genome Database

Variant: RGD:126755857 - Homo sapiens

RGD ID:

126755857

RS ID:

rs779428022

ClinVar ID:

CV997978

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130061792 TMC6 TMC8

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	76,128,007
GRCh38	17	78,131,926

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_007267.7:c.-75+415C>A NM_152468.5:c.194G>T LRG_118:g.5482C>A LRG_119:g.6149G>T More...	03/22/2020	intron variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

epidermodysplasia verruciformis (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TMC6
Accession:	XM_024450556
Location:	5UTRS;EXON

Gene Symbol:	TMC6
Accession:	XM_047435267
Location:	5UTRS;INTRON

Gene Symbol:	TMC6
Accession:	XM_047435260
Location:	5UTRS;INTRON

Gene Symbol:	TMC6
Accession:	XM_047435269
Location:	5UTRS;INTRON

Gene Symbol:	TMC6
Accession:	XM_047435253
Location:	5UTRS;INTRON

Gene Symbol:	TMC6
Accession:	XM_047435255
Location:	5UTRS;INTRON

Gene Symbol:	TMC6
Accession:	NM_007267
Location:	5UTRS;INTRON

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSPTWPS LASIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQL VWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAP ASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWRRRKGGARLQSGS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSW DCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKW HLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRF PSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLICAGRTPWGRSCTS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLCWENSVGEELYKLSIFNF LLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLL KNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSPTWPSLASIHSSWDCGLFTNYSAPWQVVPELVALGLPPIG QRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQ ASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLAAEERRSSPAVRILKRPQ ASPPQGLLHVPLHTRHEGTWLDCAVFLKLI*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSI HSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWVQ EKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARR FRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVALGLP PIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYP ASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSLLGELRGGGAVQAEYLQLPPHRGLRLPGHPASEAAGGPVLRPVLGLAGTGGVPGPQECAGHRGGADGHLDG PLLLPPAAPAE*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLCWENSVGEELYKLSIFNF LLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLL KNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLG SHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFC PGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSP TWPSLASIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRL RKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQ HGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSI HSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQV QEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASAR RFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVALGLP PIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWVQEKWHLVEDLSRLLPEPGPSDSPGPKYPA SQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKLVLLLGLLLAAVPLGYVVSSPTWPSLASIHSSWDCGLFTNYSAPWQVVP ELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPS DSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFTNYSAPWQVVPELVA LGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPG PKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSW DCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWVQEKWH LVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFP SGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSP TWPSLASIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRL RKQLVWVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQH GAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKLVLLLGLLLAAVPLGYVVSSPTWPSLASIHSSWDCGLFTNYSAPW QVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPE PGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSLLGELRGGGAVQAEYLQLPPHRGLRLPGHPASEAAGGPVLRPVLGLAGTGGVPGPQECAGHRGGADGHLDGPLLL PPAAPAE*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLCWENSVGEELYKLSIFNFLLTV AFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSR ASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSPTWPSLASIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRAL HYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRP QSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWRRRKGGARLQSGS*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLAAEERRSSPAVRILKRPQASPP QGLLHVPLHTRHEGTWLDCAVFLKLI*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLVRGAEAGQLGDVLRLPGS DHTVHWQRQEQL*

Gene Symbol:	TMC8
Accession:	NM_152468
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWA TKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTILCIG RDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVLDIVA GQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSW DCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRLRKQLVWQVQEKW HLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRF PSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEESLFLLLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSLGQTI LCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRRLLVDRFSGRFWAWLEREEFLVPKNVL DIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFYIKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSP TWPSLASIHSSWDCGLFTNYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARAIHRL RKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPGSPGHQAPRPGPSVVDAAGLRSPCPGQ HGAPASARRFRFPSGAEL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMMDKRLIWQLREPAGVQTLRWQLWQRRRQTVERRLREA AQRLARGLGLWEGALYEIGGLFGTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFCGTLRRMVKGLPQKTLLGQGYQA PLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVCARVELEEGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISA IFWATKYSQDNKEVSGVPVSAAPVPAPWGHRPGQLPGSPAVHISGPAGELPSQHGGQPHSDLVRGAEAGQLGDVLRLPGS DHTVHWQRQEQLAGRTPWGRSCTS*

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

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

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

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

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

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

Gene Symbol:	TMC6
Accession:	NM_001375353
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435266
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NM_001375354
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435263
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435271
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435268
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435276
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435275
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435259
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435254
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435251
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_011524257
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435258
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NM_001127198
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435274
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435250
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435252
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435270
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435256
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435272
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NM_001374596
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NM_001374594
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NM_001321185
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_011524256
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435264
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435265
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435277
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435273
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435278
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NM_001374593
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435261
Location:	INTRON

Gene Symbol:	TMC6
Accession:	XM_047435257
Location:	INTRON

Gene Symbol:	TMC6
Accession:	NR_168289
Location:	INTRON;NON-CODING

Gene Symbol:	TMC6
Accession:	NR_168290
Location:	INTRON;NON-CODING

Gene Symbol:	TMC6
Accession:	NR_168291
Location:	INTRON;NON-CODING

Gene Symbol:	TMC6
Accession:	NR_168288
Location:	INTRON;NON-CODING

Gene Symbol:
Accession:
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001307963	CLINVAR
dbSNP (RS)	rs779428022	CLINVAR
MedGen	C0014522	CLINVAR
NCBI Gene	LOC130061792	CLINVAR
	TMC6	CLINVAR
	TMC8	CLINVAR
OMIM	605828	CLINVAR
	605829	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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Variant: RGD:126755857 - Homo sapiens

Imported Disease Annotations - ClinVar