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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs121912585

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr12:39332405 (GRCh38.p7) 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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000 (1/3854, ALSPAC)
A=0.000 (0/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KIF21A : Missense Variant
Publications
5 citations
Genomic View
See rs on genome
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.p7 chr 12 NC_000012.12:g.39332405G>A
GRCh37.p13 chr 12 NC_000012.11:g.39726207G>A
KIF21A RefSeqGene NG_017067.1:g.115986C>T
Gene: KIF21A, kinesin family member 21A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF21A transcript variant 2 NM_017641.3:c.282...

NM_017641.3:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform 2 NP_060111.2:p.Arg...

NP_060111.2:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant 3 NM_001173463.1:c....

NM_001173463.1:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform 3 NP_001166934.1:p....

NP_001166934.1:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant 1 NM_001173464.1:c....

NM_001173464.1:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform 1 NP_001166935.1:p....

NP_001166935.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant 4 NM_001173465.1:c....

NM_001173465.1:c.2752C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform 4 NP_001166936.1:p....

NP_001166936.1:p.Arg918Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X1 XM_005269007.2:c....

XM_005269007.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X1 XP_005269064.1:p....

XP_005269064.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X2 XM_005269008.2:c....

XM_005269008.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X2 XP_005269065.1:p....

XP_005269065.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X3 XM_005269009.2:c....

XM_005269009.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X3 XP_005269066.1:p....

XP_005269066.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X4 XM_005269010.2:c....

XM_005269010.2:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X4 XP_005269067.1:p....

XP_005269067.1:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X5 XM_017019607.1:c....

XM_017019607.1:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X5 XP_016875096.1:p....

XP_016875096.1:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X6 XM_005269011.2:c....

XM_005269011.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X6 XP_005269068.1:p....

XP_005269068.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X7 XM_006719493.2:c....

XM_006719493.2:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X7 XP_006719556.1:p....

XP_006719556.1:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X8 XM_011538556.2:c....

XM_011538556.2:c.2791C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X8 XP_011536858.1:p....

XP_011536858.1:p.Arg931Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X9 XM_017019608.1:c....

XM_017019608.1:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X9 XP_016875097.1:p....

XP_016875097.1:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X10 XM_005269012.2:c....

XM_005269012.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X10 XP_005269069.1:p....

XP_005269069.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X11 XM_006719494.2:c....

XM_006719494.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X11 XP_006719557.1:p....

XP_006719557.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X12 XM_005269013.2:c....

XM_005269013.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X12 XP_005269070.1:p....

XP_005269070.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X13 XM_005269014.2:c....

XM_005269014.2:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X13 XP_005269071.1:p....

XP_005269071.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X14 XM_017019609.1:c....

XM_017019609.1:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X14 XP_016875098.1:p....

XP_016875098.1:p.Arg941Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X15 XM_017019610.1:c....

XM_017019610.1:c.2860C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X15 XP_016875099.1:p....

XP_016875099.1:p.Arg954Trp

R (Arg) > W (Trp) Missense Variant
KIF21A transcript variant X16 XM_017019611.1:c....

XM_017019611.1:c.2821C>T

R [CGG] > W [TGG] Coding Sequence Variant
kinesin-like protein KIF21A isoform X16 XP_016875100.1:p....

XP_016875100.1:p.Arg941Trp

R (Arg) > W (Trp) 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: 17475 )
ClinVar Accession Disease Names Clinical Significance
RCV000002538.2 Fibrosis of extraocular muscles, congenital, 1 Pathogenic
RCV000002539.2 Fibrosis of extraocular muscles, congenital, 3b Pathogenic
RCV000267056.1 not provided Pathogenic
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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.000 A=0.000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.000 A=0.000
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 G= A Note
GRCh38.p7 chr 12 NC_000012.12:g.39332405G= NC_000012.12:g.39332405G>A
GRCh37.p13 chr 12 NC_000012.11:g.39726207G= NC_000012.11:g.39726207G>A
KIF21A RefSeqGene NG_017067.1:g.115986C= NG_017067.1:g.115986C>T
KIF21A transcript variant 2 NM_017641.3:c.2821C= NM_017641.3:c.2821C>T
KIF21A transcript variant 1 NM_001173464.1:c.2860C= NM_001173464.1:c.2860C>T
KIF21A transcript variant 3 NM_001173463.1:c.2821C= NM_001173463.1:c.2821C>T
KIF21A transcript variant 4 NM_001173465.1:c.2752C= NM_001173465.1:c.2752C>T
KIF21A transcript variant X1 XM_005269007.2:c.2860C= XM_005269007.2:c.2860C>T
KIF21A transcript variant X1 XM_005269007.1:c.2860C= XM_005269007.1:c.2860C>T
KIF21A transcript variant X2 XM_005269008.2:c.2860C= XM_005269008.2:c.2860C>T
KIF21A transcript variant X2 XM_005269008.1:c.2860C= XM_005269008.1:c.2860C>T
KIF21A transcript variant X3 XM_005269009.2:c.2860C= XM_005269009.2:c.2860C>T
KIF21A transcript variant X3 XM_005269009.1:c.2860C= XM_005269009.1:c.2860C>T
KIF21A transcript variant X4 XM_005269010.2:c.2821C= XM_005269010.2:c.2821C>T
KIF21A transcript variant X4 XM_005269010.1:c.2821C= XM_005269010.1:c.2821C>T
KIF21A transcript variant X6 XM_005269011.2:c.2860C= XM_005269011.2:c.2860C>T
KIF21A transcript variant X5 XM_005269011.1:c.2860C= XM_005269011.1:c.2860C>T
KIF21A transcript variant X7 XM_006719493.2:c.2821C= XM_006719493.2:c.2821C>T
KIF21A transcript variant X8 XM_011538556.2:c.2791C= XM_011538556.2:c.2791C>T
KIF21A transcript variant X10 XM_005269012.2:c.2860C= XM_005269012.2:c.2860C>T
KIF21A transcript variant X8 XM_005269012.1:c.2860C= XM_005269012.1:c.2860C>T
KIF21A transcript variant X11 XM_006719494.2:c.2860C= XM_006719494.2:c.2860C>T
KIF21A transcript variant X12 XM_005269013.2:c.2860C= XM_005269013.2:c.2860C>T
KIF21A transcript variant X10 XM_005269013.1:c.2860C= XM_005269013.1:c.2860C>T
KIF21A transcript variant X13 XM_005269014.2:c.2860C= XM_005269014.2:c.2860C>T
KIF21A transcript variant X11 XM_005269014.1:c.2860C= XM_005269014.1:c.2860C>T
KIF21A transcript variant X5 XM_017019607.1:c.2821C= XM_017019607.1:c.2821C>T
KIF21A transcript variant X9 XM_017019608.1:c.2821C= XM_017019608.1:c.2821C>T
KIF21A transcript variant X15 XM_017019610.1:c.2860C= XM_017019610.1:c.2860C>T
KIF21A transcript variant X14 XM_017019609.1:c.2821C= XM_017019609.1:c.2821C>T
KIF21A transcript variant X16 XM_017019611.1:c.2821C= XM_017019611.1:c.2821C>T
kinesin-like protein KIF21A isoform 2 NP_060111.2:p.Arg941= NP_060111.2:p.Arg941Trp
kinesin-like protein KIF21A isoform 1 NP_001166935.1:p.Arg954= NP_001166935.1:p.Arg954Trp
kinesin-like protein KIF21A isoform 3 NP_001166934.1:p.Arg941= NP_001166934.1:p.Arg941Trp
kinesin-like protein KIF21A isoform 4 NP_001166936.1:p.Arg918= NP_001166936.1:p.Arg918Trp
kinesin-like protein KIF21A isoform X1 XP_005269064.1:p.Arg954= XP_005269064.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X2 XP_005269065.1:p.Arg954= XP_005269065.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X3 XP_005269066.1:p.Arg954= XP_005269066.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X4 XP_005269067.1:p.Arg941= XP_005269067.1:p.Arg941Trp
kinesin-like protein KIF21A isoform X6 XP_005269068.1:p.Arg954= XP_005269068.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X7 XP_006719556.1:p.Arg941= XP_006719556.1:p.Arg941Trp
kinesin-like protein KIF21A isoform X8 XP_011536858.1:p.Arg931= XP_011536858.1:p.Arg931Trp
kinesin-like protein KIF21A isoform X10 XP_005269069.1:p.Arg954= XP_005269069.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X11 XP_006719557.1:p.Arg954= XP_006719557.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X12 XP_005269070.1:p.Arg954= XP_005269070.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X13 XP_005269071.1:p.Arg954= XP_005269071.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X5 XP_016875096.1:p.Arg941= XP_016875096.1:p.Arg941Trp
kinesin-like protein KIF21A isoform X9 XP_016875097.1:p.Arg941= XP_016875097.1:p.Arg941Trp
kinesin-like protein KIF21A isoform X15 XP_016875099.1:p.Arg954= XP_016875099.1:p.Arg954Trp
kinesin-like protein KIF21A isoform X14 XP_016875098.1:p.Arg941= XP_016875098.1:p.Arg941Trp
kinesin-like protein KIF21A isoform X16 XP_016875100.1:p.Arg941= XP_016875100.1:p.Arg941Trp
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#.

3 ClinVar, 2 Frequency, 4 SubSNP submissions
No Submitter Submission ID Date (Build)
1 OMIM-CURATED-RECORDS ss275513686 Nov 22, 2010 (133)
2 EVA_UK10K_ALSPAC ss1628415057 Apr 01, 2015 (144)
3 EVA_UK10K_TWINSUK ss1671409090 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2189083762 Dec 20, 2016 (150)
5 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 39726207 Jul 20, 2018 (151)
6 UK 10K study - Twins NC_000012.11 - 39726207 Jul 20, 2018 (151)
7 ClinVar RCV000002538.2 Jul 20, 2018 (151)
8 ClinVar RCV000002539.2 Jul 20, 2018 (151)
9 ClinVar RCV000267056.1 Jul 20, 2018 (151)
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
31880961, 31880961, ss1628415057, ss1671409090 NC_000012.11:39726206:G= NC_000012.12:39332404:G= (self)
ss275513686, ss2189083762 NC_000012.12:39332404:G= NC_000012.12:39332404:G= (self)
31880961, 31880961, ss1628415057, ss1671409090 NC_000012.11:39726206:G>A NC_000012.12:39332404:G>A (self)
RCV000002538.2, RCV000002539.2, RCV000267056.1, ss275513686, ss2189083762 NC_000012.12:39332404:G>A NC_000012.12:39332404:G>A (self)
Help

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

5 citations for rs121912585
PMID Title Author Year Journal
14595441 Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Yamada K et al. 2003 Nature genetics
15621876 Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Tiab L et al. 2004 Ophthalmic genetics
15621877 Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. Ali M et al. 2004 Ophthalmic genetics
15827546 KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. Lin LK et al. 2005 Molecular vision
19551685 KIF21A variant R954W in familial or sporadic cases of CFEOM1. Rudolph G et al. 2009 European journal of ophthalmology

Genomic regions, transcripts, and products
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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: 0.1.4.post833+d3ba21e