Links from Gene
Items: 1 to 20 of 1000
2.
rs1491223308 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 17:74451692
(GRCh38)
17:72447831
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74451691:GT:
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
4.
rs1490999117 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:74432799
(GRCh38)
17:72428938
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74432798:CC:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00032/5
(TOMMO)
- HGVS:
5.
rs1490968405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:74438221
(GRCh38)
17:72434360
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74438220:A:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
6.
rs1490933291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAGGGCTAAGACA>-
[Show Flanks]
- Chromosome:
- 17:74445715
(GRCh38)
17:72441854
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74445712:CATAGGGCTAAGACA:CA
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
7.
rs1490842529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:74431931
(GRCh38)
17:72428070
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74431930:C:T
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
8.
rs1490734643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:74438307
(GRCh38)
17:72434446
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74438306:T:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000546/1
(Korea1K)
- HGVS:
9.
rs1490443427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:74445275
(GRCh38)
17:72441414
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74445274:A:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1490430213 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:74430697
(GRCh38)
17:72426836
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74430696:T:A
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490353694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:74431506
(GRCh38)
17:72427645
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74431505:G:A
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490293386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:74440134
(GRCh38)
17:72436273
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74440133:C:T
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000017.11:g.74440134C>T, NC_000017.10:g.72436273C>T, NW_025791806.1:g.16582C>T, NM_018653.5:c.358C>T, NM_018653.4:c.358C>T, NM_018653.3:c.394C>T, NM_022036.4:c.358C>T, NM_022036.3:c.358C>T, NM_022036.2:c.493C>T, NM_001366261.2:c.358C>T, NM_001366261.1:c.358C>T, NM_001366262.2:c.358C>T, NM_001366262.1:c.358C>T, XM_047436400.1:c.358C>T, XM_047436398.1:c.658C>T, XM_047436399.1:c.358C>T, NP_061123.4:p.Arg120Cys, NP_071319.3:p.Arg120Cys, NP_001353190.1:p.Arg120Cys, NP_001353191.1:p.Arg120Cys, XP_047292356.1:p.Arg120Cys, XP_047292354.1:p.Arg220Cys, XP_047292355.1:p.Arg120Cys
13.
rs1490257769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:74450839
(GRCh38)
17:72446978
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74450838:T:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490230198 has merged into rs71157066 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 17:74438217
(GRCh38)
17:72434356
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000017.11:74438206:ATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000017.11:g.74438207AT[5], NC_000017.11:g.74438207AT[6], NC_000017.11:g.74438207AT[7], NC_000017.11:g.74438207AT[8], NC_000017.11:g.74438207AT[9], NC_000017.11:g.74438207AT[10], NC_000017.11:g.74438207AT[11], NC_000017.11:g.74438207AT[12], NC_000017.11:g.74438207AT[13], NC_000017.11:g.74438207AT[14], NC_000017.11:g.74438207AT[15], NC_000017.11:g.74438207AT[16], NC_000017.11:g.74438207AT[17], NC_000017.11:g.74438207AT[18], NC_000017.11:g.74438207AT[19], NC_000017.11:g.74438207AT[20], NC_000017.11:g.74438207AT[21], NC_000017.11:g.74438207AT[22], NC_000017.11:g.74438207AT[24], NC_000017.11:g.74438207AT[25], NC_000017.11:g.74438207AT[26], NC_000017.11:g.74438207AT[27], NC_000017.11:g.74438207AT[28], NC_000017.11:g.74438207AT[29], NC_000017.11:g.74438207AT[30], NC_000017.11:g.74438207AT[31], NC_000017.11:g.74438207AT[32], NC_000017.10:g.72434346AT[5], NC_000017.10:g.72434346AT[6], NC_000017.10:g.72434346AT[7], NC_000017.10:g.72434346AT[8], NC_000017.10:g.72434346AT[9], NC_000017.10:g.72434346AT[10], NC_000017.10:g.72434346AT[11], NC_000017.10:g.72434346AT[12], NC_000017.10:g.72434346AT[13], NC_000017.10:g.72434346AT[14], NC_000017.10:g.72434346AT[15], NC_000017.10:g.72434346AT[16], NC_000017.10:g.72434346AT[17], NC_000017.10:g.72434346AT[18], NC_000017.10:g.72434346AT[19], NC_000017.10:g.72434346AT[20], NC_000017.10:g.72434346AT[21], NC_000017.10:g.72434346AT[22], NC_000017.10:g.72434346AT[24], NC_000017.10:g.72434346AT[25], NC_000017.10:g.72434346AT[26], NC_000017.10:g.72434346AT[27], NC_000017.10:g.72434346AT[28], NC_000017.10:g.72434346AT[29], NC_000017.10:g.72434346AT[30], NC_000017.10:g.72434346AT[31], NC_000017.10:g.72434346AT[32], NW_025791806.1:g.14655AT[5], NW_025791806.1:g.14655AT[6], NW_025791806.1:g.14655AT[7], NW_025791806.1:g.14655AT[8], NW_025791806.1:g.14655AT[9], NW_025791806.1:g.14655AT[10], NW_025791806.1:g.14655AT[11], NW_025791806.1:g.14655AT[12], NW_025791806.1:g.14655AT[13], NW_025791806.1:g.14655AT[14], NW_025791806.1:g.14655AT[15], NW_025791806.1:g.14655AT[16], NW_025791806.1:g.14655AT[17], NW_025791806.1:g.14655AT[18], NW_025791806.1:g.14655AT[19], NW_025791806.1:g.14655AT[20], NW_025791806.1:g.14655AT[21], NW_025791806.1:g.14655AT[22], NW_025791806.1:g.14655AT[24], NW_025791806.1:g.14655AT[25], NW_025791806.1:g.14655AT[26], NW_025791806.1:g.14655AT[27], NW_025791806.1:g.14655AT[28], NW_025791806.1:g.14655AT[29], NW_025791806.1:g.14655AT[30], NW_025791806.1:g.14655AT[31], NW_025791806.1:g.14655AT[32]
16.
rs1490174031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:74437544
(GRCh38)
17:72433683
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74437543:T:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490019764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:74444939
(GRCh38)
17:72441078
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74444938:C:G
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489922073 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:74430203
(GRCh38)
17:72426342
(GRCh37)
- Canonical SPDI:
- NC_000017.11:74430202:T:C
- Gene:
- GPRC5C (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: