RGD:329953545 Rat Genome Database

Variant: RGD:329953545 - Homo sapiens

RGD ID:

329953545

ClinVar ID:

CV2668477

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MITF

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	70,014,050
GRCh38	3	69,964,899

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
LRG_776:g.230418G>T NG_011631.1:g.230418G>T NC_000003.12:g.69964899G>T NC_000003.11:g.70014050G>T More...	11/23/2022	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	MITF
Accession:	NM_001354607
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	388

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDWAINFVHLPSCALMASSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPA INVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSA PNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSND PDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTVLCSPDLVNRIIK QEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSV SPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_001354605
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	410

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIER RRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARA HGLSLIPSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKL EDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_198178
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILG LMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNIND RIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPS TVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDT LSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_198159
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	405

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKL QAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPC PNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFN INDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSL IPSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILM DDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_006722
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	404

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSRSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNI NDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI PSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMD DTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_001184967
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	353

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQ QAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGM NTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKREL TESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQ KKLEHANRHLLLRIQELEMQARAHGLSLIPSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFN NNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_198158
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	298

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTL NSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGN QGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI LKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTVLCSPDLVNRIIKQEPVLENCSQ DLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSR RSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_000248
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTL NSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGN QGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMR WNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTVLCSPDLVNRIIKQEPV LENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGA SKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_001354604
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	411

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKL QAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPC PNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIE RRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQAR AHGLSLIPSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_198177
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	389

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEALRVQMFMPCSFESLYLSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTP AINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSS APNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLP VSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSN DPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTVLCSPDLVNRII KQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSS VSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_001354606
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	404

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNI NDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI PSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMD DTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_001354608
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	353

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQ QAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGM NTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKREL TESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQ KKLEHANRHLLLRIQELEMQARAHGLSLIPSTVLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFN NNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:	MITF
Accession:	NM_001184968
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003230130	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	MITF	CLINVAR
OMIM	156845	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)

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

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Variant: RGD:329953545 - Homo sapiens