RGD:401895670 Rat Genome Database

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Variant: RGD:401895670 -  Homo sapiens

RGD ID: 401895670
ClinVar ID: CV2771180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG1L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 108,831,515
GRCh38 6 108,510,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001323005.2:c.1063-9385G>A
NM_145315.5:c.1163G>A
NC_000006.12:g.108510312G>A
NC_000006.11:g.108831515G>A
More... 		08/15/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AFG1L
Accession:XM_017010648
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMDMFYAYVEMKRKKRVHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSYDPIAPIAEEISEEACLLCFDEFQVTDIADA
MILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNTVQLDSGIDYRKRELPAAGKLYYLTSEADV
EAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCERPLGASDYLELSKNFDTIFLRNIPQFTLAN
RTQGQRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMDDLGLSQDSAEGLSMFTGEEEIFAFQRTISR
LTEMQTEQYWNEGDRTKK*

Gene Symbol:AFG1L
Accession:XM_011535657
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASWSLLVTLRPLAQSPLRGRCVGCGAWAAALAPLATAPGKPFWKAYTVQTSESMTPTATSETYLKALAVCHGPLDHYD
FLIKAHELKDDEHQRRVIQCLQKLHEDLKGYNIEAEGLFSKLFSRSKPPRGLYVYGDVGIHRLKQSLPKRKPGFMAKSYD
PIAPIAEEISEEACLLCFDEFQVTDIADAMILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNT
VQLDSGIDYRKRELPAAGKLYYLTSEADVEAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCER
PLGASDYLELSKNFDTIFLRNIPQFTLANRTQGQRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMDD
LGLSQDSAEGLSMFTGEEEIFAFQRTISRLTEMQTEQYWNEGDRTKK*

Gene Symbol:AFG1L
Accession:XM_047418559
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKSYDPIAPIAEEISEEACLLCFDEFQVTDIADAMILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVL
KEYCNTVQLDSGIDYRKRELPAAGKLYYLTSEADVEAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTF
EELCERPLGASDYLELSKNFDTIFLRNIPQFTLANRTQGQRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQS
RILMDDLGLSQDSAEGLSMFTGEEEIFAFQRTISRLTEMQTEQYWNEGDRTKK*

Gene Symbol:AFG1L
Accession:XM_047418557
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 352
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQSRYPDFTAYTVQTSESMTPTATSETYLKALAVCHGPLDHYDFLIKAHELKDDEHQRRVIQCLQKLHEDLKGYNIEAE
GLFSKLFSRSKPPRGLYVYGDVGTGKTMVMDMFYAYVEMKRKKRVHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSYDPI
APIAEEISEEACLLCFDEFQVTDIADAMILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNTVQ
LDSGIDYRKRELPAAGKLYYLTSEADVEAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCERPL
GASDYLELSKNFDTIFLRNIPQFTLANRTQGQRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMDDLG
LSQDSAEGLSMFTGEEEIFAFQRTISRLTEMQTEQYWNEGDRTKK*

Gene Symbol:AFG1L
Accession:NM_145315
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASWSLLVTLRPLAQSPLRGRCVGCGAWAAALAPLATAPGKPFWKAYTVQTSESMTPTATSETYLKALAVCHGPLDHYD
FLIKAHELKDDEHQRRVIQCLQKLHEDLKGYNIEAEGLFSKLFSRSKPPRGLYVYGDVGTGKTMVMDMFYAYVEMKRKKR
VHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSYDPIAPIAEEISEEACLLCFDEFQVTDIADAMILKQLFENLFKNGVVV
VATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNTVQLDSGIDYRKRELPAAGKLYYLTSEADVEAVMDKLFDELAQKQND
LTRPRILKVQGRELRLNKACGTVADCTFEELCERPLGASDYLELSKNFDTIFLRNIPQFTLANRTQGQRFITLIDNFYDL
KVRIICSASTPISSLFLHQHHDSELEQSRILMDDLGLSQDSAEGLSMFTGEEEIFAFQRTISRLTEMQTEQYWNEGDRTK
K*

Gene Symbol:AFG1L
Accession:XM_047418558
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVMDMFYAYVEMKRKKRVHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSYDPIAPIAEEISEEACLLCFDEFQVTDIADA
MILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCNTVQLDSGIDYRKRELPAAGKLYYLTSEADV
EAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCERPLGASDYLELSKNFDTIFLRNIPQFTLAN
RTQGQRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMDDLGLSQDSAEGLSMFTGEEEIFAFQRTISR
LTEMQTEQYWNEGDRTKK*

Gene Symbol:AFG1L
Accession:XM_005266885
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCATPPSLNFKKLAYTVQTSESMTPTATSETYLKALAVCHGPLDHYDFLIKAHELKDDEHQRRVIQCLQKLHEDLKGYNI
EAEGLFSKLFSRSKPPRGLYVYGDVGTGKTMVMDMFYAYVEMKRKKRVHFHGFMLDVHKRIHRLKQSLPKRKPGFMAKSY
DPIAPIAEEISEEACLLCFDEFQVTDIADAMILKQLFENLFKNGVVVVATSNRPPEDLYKNGLQRANFVPFIAVLKEYCN
TVQLDSGIDYRKRELPAAGKLYYLTSEADVEAVMDKLFDELAQKQNDLTRPRILKVQGRELRLNKACGTVADCTFEELCE
RPLGASDYLELSKNFDTIFLRNIPQFTLANRTQGQRFITLIDNFYDLKVRIICSASTPISSLFLHQHHDSELEQSRILMD
DLGLSQDSAEGLSMFTGEEEIFAFQRTISRLTEMQTEQYWNEGDRTKK*

Gene Symbol:AFG1L
Accession:NR_136553
Location:EXON;NON-CODING

Gene Symbol:AFG1L
Accession:NM_001323005
Location:INTRON

Gene Symbol:AFG1L
Accession:XM_011535660
Location:INTRON

Gene Symbol:AFG1L
Accession:XM_011535661
Location:INTRON

Gene Symbol:AFG1L
Accession:XM_011535659
Location:INTRON

Gene Symbol:AFG1L
Accession:XR_007059229
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004346174 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AFG1L CLINVAR
OMIM 617469 CLINVAR