RGD:151352990 Rat Genome Database

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Variant: RGD:151352990 -  Homo sapiens

RGD ID: 151352990
RS ID: rs2107537021
ClinVar ID: CV1326504
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MITF  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 70,008,453
GRCh38 3 69,959,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354606.2:c.1040T>C
NM_006722.3:c.1040T>C
NM_198159.3:c.1043T>C
NM_001354605.2:c.1058T>C
More... 		12/01/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MITF
Accession:NM_000248
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 247
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTL
NSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGN
QGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMR
WNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPV
LENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGA
SKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001354606
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ
AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP
NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI
LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNI
NDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI
PSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMD
DTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001184967
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQ
QAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGM
NTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKREL
TESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQ
KKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFN
NNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_198178
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILG
LMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNIND
RIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPS
TGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDT
LSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001354605
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 353
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ
AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP
NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI
LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIER
RRRFNINDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARA
HGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKL
EDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_198158
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTL
NSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGN
QGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTI
SKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQ
DLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSR
RSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_198177
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALRVQMFMPCSFESLYLSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTP
AINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSS
APNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLP
VSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSN
DPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRII
KQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSS
VSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_198159
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKL
QAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPC
PNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFN
INDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSL
IPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILM
DDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001354607
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWAINFVHLPSCALMASSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPA
INVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSA
PNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPV
SGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSND
PDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIK
QEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSV
SPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001354608
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQ
QAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGM
NTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKREL
TESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQ
KKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFN
NNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001354604
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKL
QAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPC
PNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEE
ILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIE
RRRRFNINDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQAR
AHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSK
LEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_006722
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSRSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQ
AAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCP
NQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEI
LGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNI
NDRIKELGTLIPKSNDPDMRWNKGTISKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLI
PSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMD
DTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC*

Gene Symbol:MITF
Accession:NM_001184968
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001815925 CLINVAR
dbSNP (RS) rs2107537021 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MITF CLINVAR
OMIM 156845 CLINVAR