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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs398124393

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:46756031 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>A
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
FKRP : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

None
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 19 NC_000019.10:g.46756031T>A
GRCh37.p13 chr 19 NC_000019.9:g.47259288T>A
FKRP RefSeqGene (LRG_761) NG_008898.2:g.14986T>A
Gene: FKRP, fukutin related protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FKRP transcript variant 1 NM_024301.5:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP NP_077277.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant 2 NM_001039885.3:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP NP_001034974.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X1 XM_017027297.3:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_016882786.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X2 XM_047439421.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295377.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X3 XM_047439422.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295378.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X4 XM_005259248.3:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259305.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X5 XM_005259247.3:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259304.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X6 XM_005259249.5:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259306.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X7 XM_047439423.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295379.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X8 XM_047439424.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295380.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X9 XM_047439425.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295381.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X10 XM_047439426.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295382.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X11 XM_047439427.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295383.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X12 XM_047439428.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295384.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X13 XM_024451707.2:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_024307475.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X14 XM_011527306.3:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525608.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X15 XM_011527307.2:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525609.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
FKRP transcript variant X16 XM_047439429.1:c.581T>A L [CTG] > Q [CAG] Coding Sequence Variant
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295385.1:p.Leu194Gln L (Leu) > Q (Gln) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 102005 )
ClinVar Accession Disease Names Clinical Significance
RCV000082178.7 not provided Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= A
GRCh38.p14 chr 19 NC_000019.10:g.46756031= NC_000019.10:g.46756031T>A
GRCh37.p13 chr 19 NC_000019.9:g.47259288= NC_000019.9:g.47259288T>A
FKRP RefSeqGene (LRG_761) NG_008898.2:g.14986= NG_008898.2:g.14986T>A
FKRP transcript variant 1 NM_024301.5:c.581= NM_024301.5:c.581T>A
FKRP transcript variant 1 NM_024301.4:c.581= NM_024301.4:c.581T>A
FKRP transcript variant 2 NM_001039885.3:c.581= NM_001039885.3:c.581T>A
FKRP transcript variant 2 NM_001039885.2:c.581= NM_001039885.2:c.581T>A
FKRP transcript variant X6 XM_005259249.5:c.581= XM_005259249.5:c.581T>A
FKRP transcript variant X4 XM_005259249.4:c.581= XM_005259249.4:c.581T>A
FKRP transcript variant X5 XM_005259249.3:c.581= XM_005259249.3:c.581T>A
FKRP transcript variant X4 XM_005259249.2:c.581= XM_005259249.2:c.581T>A
FKRP transcript variant X4 XM_005259249.1:c.581= XM_005259249.1:c.581T>A
FKRP transcript variant X1 XM_017027297.3:c.581= XM_017027297.3:c.581T>A
FKRP transcript variant X1 XM_017027297.2:c.581= XM_017027297.2:c.581T>A
FKRP transcript variant X1 XM_017027297.1:c.581= XM_017027297.1:c.581T>A
FKRP transcript variant X5 XM_005259247.3:c.581= XM_005259247.3:c.581T>A
FKRP transcript variant X3 XM_005259247.2:c.581= XM_005259247.2:c.581T>A
FKRP transcript variant X4 XM_005259247.1:c.581= XM_005259247.1:c.581T>A
FKRP transcript variant X4 XM_005259248.3:c.581= XM_005259248.3:c.581T>A
FKRP transcript variant X2 XM_005259248.2:c.581= XM_005259248.2:c.581T>A
FKRP transcript variant X2 XM_005259248.1:c.581= XM_005259248.1:c.581T>A
FKRP transcript variant X14 XM_011527306.3:c.581= XM_011527306.3:c.581T>A
FKRP transcript variant X6 XM_011527306.2:c.581= XM_011527306.2:c.581T>A
FKRP transcript variant X5 XM_011527306.1:c.581= XM_011527306.1:c.581T>A
FKRP transcript variant X13 XM_024451707.2:c.581= XM_024451707.2:c.581T>A
FKRP transcript variant X5 XM_024451707.1:c.581= XM_024451707.1:c.581T>A
FKRP transcript variant X15 XM_011527307.2:c.581= XM_011527307.2:c.581T>A
FKRP transcript variant X7 XM_011527307.1:c.581= XM_011527307.1:c.581T>A
FKRP transcript variant X8 XM_047439424.1:c.581= XM_047439424.1:c.581T>A
FKRP transcript variant X9 XM_047439425.1:c.581= XM_047439425.1:c.581T>A
FKRP transcript variant X2 XM_047439421.1:c.581= XM_047439421.1:c.581T>A
FKRP transcript variant X3 XM_047439422.1:c.581= XM_047439422.1:c.581T>A
FKRP transcript variant X11 XM_047439427.1:c.581= XM_047439427.1:c.581T>A
FKRP transcript variant X10 XM_047439426.1:c.581= XM_047439426.1:c.581T>A
FKRP transcript variant X7 XM_047439423.1:c.581= XM_047439423.1:c.581T>A
FKRP transcript variant X12 XM_047439428.1:c.581= XM_047439428.1:c.581T>A
FKRP transcript variant X16 XM_047439429.1:c.581= XM_047439429.1:c.581T>A
ribitol 5-phosphate transferase FKRP NP_077277.1:p.Leu194= NP_077277.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP NP_001034974.1:p.Leu194= NP_001034974.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259306.1:p.Leu194= XP_005259306.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_016882786.1:p.Leu194= XP_016882786.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259304.1:p.Leu194= XP_005259304.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_005259305.1:p.Leu194= XP_005259305.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525608.1:p.Leu194= XP_011525608.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_024307475.1:p.Leu194= XP_024307475.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_011525609.1:p.Leu194= XP_011525609.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295380.1:p.Leu194= XP_047295380.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295381.1:p.Leu194= XP_047295381.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295377.1:p.Leu194= XP_047295377.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295378.1:p.Leu194= XP_047295378.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295383.1:p.Leu194= XP_047295383.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295382.1:p.Leu194= XP_047295382.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295379.1:p.Leu194= XP_047295379.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295384.1:p.Leu194= XP_047295384.1:p.Leu194Gln
ribitol 5-phosphate transferase FKRP isoform X1 XP_047295385.1:p.Leu194= XP_047295385.1:p.Leu194Gln
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

1 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGL ss947848333 Jan 23, 2014 (138)
2 ClinVar RCV000082178.7 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
RCV000082178.7, ss947848333 NC_000019.10:46756030:T:A NC_000019.10:46756030:T:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs398124393
PMID Title Author Year Journal
23757202 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Bean LJ et al. 2013 Human mutation
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07