Links from Gene
Items: 1 to 20 of 1000
1.
rs1491480306 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 3:48448161
(GRCh38)
3:-1
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48448160:CT:
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000018/2
(GnomAD)
- HGVS:
2.
rs1491435660 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 3:48441499
(GRCh38)
3:48482911
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48441499::TC
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TC=0.000253/3
(
ALFA)
TC=0.000312/2
(1000Genomes)
TC=0.000323/45
(GnomAD)
- HGVS:
3.
rs1491432883 has merged into rs34075060 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:48448175
(GRCh38)
3:48489579
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:48448161:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.48448175_48448181del, NC_000003.12:g.48448176_48448181del, NC_000003.12:g.48448177_48448181del, NC_000003.12:g.48448179_48448181del, NC_000003.12:g.48448180_48448181del, NC_000003.12:g.48448181del, NC_000003.12:g.48448181dup, NC_000003.12:g.48448180_48448181dup, NC_000003.12:g.48448179_48448181dup, NC_000003.12:g.48448178_48448181dup, NC_000003.12:g.48448177_48448181dup, NC_000003.12:g.48448176_48448181dup, NC_000003.12:g.48448175_48448181dup, NC_000003.12:g.48448174_48448181dup, NC_000003.12:g.48448173_48448181dup, NC_000003.12:g.48448171_48448181dup, NC_000003.12:g.48448170_48448181dup, NC_000003.12:g.48448181_48448182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.48489580_48489586del, NC_000003.11:g.48489581_48489586del, NC_000003.11:g.48489582_48489586del, NC_000003.11:g.48489584_48489586del, NC_000003.11:g.48489585_48489586del, NC_000003.11:g.48489586del, NC_000003.11:g.48489586dup, NC_000003.11:g.48489585_48489586dup, NC_000003.11:g.48489584_48489586dup, NC_000003.11:g.48489583_48489586dup, NC_000003.11:g.48489582_48489586dup, NC_000003.11:g.48489581_48489586dup, NC_000003.11:g.48489580_48489586dup, NC_000003.11:g.48489579_48489586dup, NC_000003.11:g.48489578_48489586dup, NC_000003.11:g.48489576_48489586dup, NC_000003.11:g.48489575_48489586dup, NC_000003.11:g.48489586_48489587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_041782.1:g.6466_6472del, NG_041782.1:g.6467_6472del, NG_041782.1:g.6468_6472del, NG_041782.1:g.6470_6472del, NG_041782.1:g.6471_6472del, NG_041782.1:g.6472del, NG_041782.1:g.6472dup, NG_041782.1:g.6471_6472dup, NG_041782.1:g.6470_6472dup, NG_041782.1:g.6469_6472dup, NG_041782.1:g.6468_6472dup, NG_041782.1:g.6467_6472dup, NG_041782.1:g.6466_6472dup, NG_041782.1:g.6465_6472dup, NG_041782.1:g.6464_6472dup, NG_041782.1:g.6462_6472dup, NG_041782.1:g.6461_6472dup, NG_041782.1:g.6472_6473insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491396046 has merged into rs3082576 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:48443250
(GRCh38)
3:48484659
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:48443241:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.48443250_48443265del, NC_000003.12:g.48443252_48443265del, NC_000003.12:g.48443253_48443265del, NC_000003.12:g.48443254_48443265del, NC_000003.12:g.48443255_48443265del, NC_000003.12:g.48443256_48443265del, NC_000003.12:g.48443257_48443265del, NC_000003.12:g.48443258_48443265del, NC_000003.12:g.48443259_48443265del, NC_000003.12:g.48443260_48443265del, NC_000003.12:g.48443261_48443265del, NC_000003.12:g.48443262_48443265del, NC_000003.12:g.48443263_48443265del, NC_000003.12:g.48443264_48443265del, NC_000003.12:g.48443265del, NC_000003.12:g.48443265dup, NC_000003.12:g.48443264_48443265dup, NC_000003.12:g.48443263_48443265dup, NC_000003.12:g.48443262_48443265dup, NC_000003.12:g.48443261_48443265dup, NC_000003.12:g.48443260_48443265dup, NC_000003.12:g.48443259_48443265dup, NC_000003.12:g.48443258_48443265dup, NC_000003.11:g.48484673dup, NC_000003.11:g.48484659_48484673del, NC_000003.11:g.48484661_48484673del, NC_000003.11:g.48484662_48484673del, NC_000003.11:g.48484663_48484673del, NC_000003.11:g.48484664_48484673del, NC_000003.11:g.48484665_48484673del, NC_000003.11:g.48484666_48484673del, NC_000003.11:g.48484667_48484673del, NC_000003.11:g.48484668_48484673del, NC_000003.11:g.48484669_48484673del, NC_000003.11:g.48484670_48484673del, NC_000003.11:g.48484671_48484673del, NC_000003.11:g.48484672_48484673del, NC_000003.11:g.48484673del, NC_000003.11:g.48484672_48484673dup, NC_000003.11:g.48484671_48484673dup, NC_000003.11:g.48484670_48484673dup, NC_000003.11:g.48484669_48484673dup, NC_000003.11:g.48484668_48484673dup, NC_000003.11:g.48484667_48484673dup, NC_000003.11:g.48484666_48484673dup, NC_000003.11:g.48484665_48484673dup, NG_041782.1:g.1541_1556del, NG_041782.1:g.1543_1556del, NG_041782.1:g.1544_1556del, NG_041782.1:g.1545_1556del, NG_041782.1:g.1546_1556del, NG_041782.1:g.1547_1556del, NG_041782.1:g.1548_1556del, NG_041782.1:g.1549_1556del, NG_041782.1:g.1550_1556del, NG_041782.1:g.1551_1556del, NG_041782.1:g.1552_1556del, NG_041782.1:g.1553_1556del, NG_041782.1:g.1554_1556del, NG_041782.1:g.1555_1556del, NG_041782.1:g.1556del, NG_041782.1:g.1556dup, NG_041782.1:g.1555_1556dup, NG_041782.1:g.1554_1556dup, NG_041782.1:g.1553_1556dup, NG_041782.1:g.1552_1556dup, NG_041782.1:g.1551_1556dup, NG_041782.1:g.1550_1556dup, NG_041782.1:g.1549_1556dup
5.
rs1491227302 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:48442260
(GRCh38)
3:48483670
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48442259:CA:
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490802136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:48441652
(GRCh38)
3:48483063
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48441651:T:G
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490700001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:48441023
(GRCh38)
3:48482433
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48441022:T:C
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490663318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:48446965
(GRCh38)
3:48488369
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48446964:C:T
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.48446965C>T, NC_000003.11:g.48488369C>T, NG_041782.1:g.5256C>T, NM_032166.4:c.120C>T, NM_032166.3:c.120C>T, NM_130384.3:c.120C>T, NM_130384.2:c.120C>T, NM_033627.3:c.-2834C>T, NM_033627.2:c.-2834C>T, NR_153405.1:n.187C>T, NM_033627.1:c.-2834C>T
11.
rs1490644565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:48441104
(GRCh38)
3:48482514
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48441103:C:G,NC_000003.12:48441103:C:T
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490612198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:48442026
(GRCh38)
3:48483437
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48442025:G:A
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490537866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:48441315
(GRCh38)
3:48482725
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48441314:A:G
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000034/9
(TOPMED)
- HGVS:
14.
rs1490426136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:48447533
(GRCh38)
3:48488937
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48447532:A:T
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490410187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:48434759
(GRCh38)
3:48476169
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48434758:G:C
- Gene:
- CCDC51 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490356000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:48448525
(GRCh38)
3:48489930
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48448524:C:G
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490208936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:48440725
(GRCh38)
3:48482135
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48440724:C:G,NC_000003.12:48440724:C:T
- Gene:
- TMA7 (Varview), CCDC51 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.48440725C>G, NC_000003.12:g.48440725C>T, NC_000003.11:g.48482135C>G, NC_000003.11:g.48482135C>T, XM_011534113.3:c.125G>C, XM_011534113.3:c.125G>A, XM_011534113.2:c.125G>C, XM_011534113.2:c.125G>A, XM_011534113.1:c.125G>C, XM_011534113.1:c.125G>A, XM_047448938.1:c.125G>C, XM_047448938.1:c.125G>A, XP_011532415.1:p.Arg42Pro, XP_011532415.1:p.Arg42His, XP_047304894.1:p.Arg42Pro, XP_047304894.1:p.Arg42His
18.
rs1490091548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:48446750
(GRCh38)
3:48488154
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48446749:G:A,NC_000003.12:48446749:G:T
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000003.12:g.48446750G>A, NC_000003.12:g.48446750G>T, NC_000003.11:g.48488154G>A, NC_000003.11:g.48488154G>T, NG_041782.1:g.5041G>A, NG_041782.1:g.5041G>T, NM_032166.4:c.-96G>A, NM_032166.4:c.-96G>T, NM_032166.3:c.-96G>A, NM_032166.3:c.-96G>T, NM_130384.3:c.-96G>A, NM_130384.3:c.-96G>T, NM_130384.2:c.-96G>A, NM_130384.2:c.-96G>T, NM_001271022.2:c.-267G>A, NM_001271022.2:c.-267G>T, NM_001271022.1:c.-267G>A, NM_001271022.1:c.-267G>T
19.
rs1489776544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:48435145
(GRCh38)
3:48476555
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48435144:G:A,NC_000003.12:48435144:G:C
- Gene:
- CCDC51 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000005/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489772895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
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- Chromosome:
- 3:48445898
(GRCh38)
3:48487302
(GRCh37)
- Canonical SPDI:
- NC_000003.12:48445897:A:G
- Gene:
- CCDC51 (Varview), ATRIP (Varview), ATRIP-TREX1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: