RGD:156379270 Rat Genome Database

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Variant: RGD:156379270 -  Homo sapiens

RGD ID: 156379270
ClinVar ID: CV2207928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLOT1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 30,709,620
GRCh38 6 30,741,843
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318875.2:c.68T>G
NM_005803.4:c.68T>G
NG_107701.1:g.372A>C
NC_000006.12:g.30741843A>C
More... 		12/07/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLOT1
Accession:NM_005803
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFFTCGPNEAMVVSGFCRSPPVRVAGGRVFVLPCIQQIQRISLNTLTLNVKSEKVYTRHGVPISVTGIAQVKIQGQNKEM
LAAACQMFLGKTEAEIAHIALETLEGHQRAIMAHMTVEEIYKDRQKFSEQVFKVASSDLVNMGISVVSYTLKDIHDDQDY
LHSLGKARTAQVQKDARIGEAEAKRDAGIREAKAKQEKVSAQYLSEIEMAKAQRDYELKKAAYDIEVNTRRAQADLAYQL
QVAKTKQQIEEQRVQVQVVERAQQVAVQEQEIARREKELEARVRKPAEAERYKLERLAEAEKSQLIMQAEAEAASVRMRG
EAEAFAIGARARAEAEQMAKKAEAFQLYQEAAQLDMLLEKLPQVAEEISGPLTSANKITLVSSGSGTMGAAKVTGEVLDI
LTRLPESVERLTGVSISQVNHKPLRTA*

Gene Symbol:FLOT1
Accession:NM_001318875
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFFTCGPNEAMVVSGFCRSPPVRVAGGRVFVLPCIQQIQRISLNTLTLNVKSEKVYTRHGVPISVTGIAQEIYKDRQKFS
EQVFKVASSDLVNMGISVVSYTLKDIHDDQDYLHSLGKARTAQVQKDARIGEAEAKRDAGIREAKAKQEKVSAQYLSEIE
MAKAQRDYELKKAAYDIEVNTRRAQADLAYQLQVAKTKQQIEEQRVQVQVVERAQQVAVQEQEIARREKELEARVRKPAE
AERYKLERLAEAEKSQLIMQAEAEAASVRMRGEAEAFAIGARARAEAEQMAKKAEAFQLYQEAAQLDMLLEKLPQVAEEI
SGPLTSANKITLVSSGSGTMGAAKVTGEVLDILTRLPESVERLTGVSISQVNHKPLRTA*

Gene Symbol:FLOT1
Accession:XM_005248780
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFFTCGPNEAMVVSGFCRSPPVRVAGGRVFVLPCIQQIQRISLNTLTLNVKSEKVYTRHGVPISVTGIAQVKIQGQNKEM
LAAACQMFLGKTEAEIAHIALETLEGHQRAIMAHMTVEEIYKDRQKFSEQVFKVASSDLVNMGISVVSYTLKDIHDDQDY
LHSLGKARTAQVQKDARIGEAEAKRDAGIREAKAKQEKVSAQYLSEIEMAKAQRDYELKKAAYDIEVNTRRAQADLAYQL
QVAKTKQQIEEQRVQVQVVERAQQVAVQEQEIARREKELEARVRKPAEAERYKLERLAEAEKSQLIMQAEAEAASVRMRG
EAEAFAIGARARAEAEQMAKKAEAFQLYQEAAQLDMLLEKLPQVAEEISGPLTSANKITLVSSGSGTMGAAKVTGEVLDI
LTRLPESVERLTGVSISQVNHKPLRTA*

Gene Symbol:FLOT1
Accession:XM_017010157
Location:INTRON

Gene Symbol:FLOT1
Accession:XM_017010158
Location:INTRON

Gene Symbol:FLOT1
Accession:XM_047418064
Location:INTRON

Gene Symbol:FLOT1
Accession:XM_006714947
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002678382 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene FLOT1 CLINVAR
OMIM 606998 CLINVAR