SNP Links for Protein (Select 258679526) - SNP

Links from Protein

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Select item 14866209581.

rs1486620958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:10104541 (GRCh38)
3:10146225 (GRCh37)
Canonical SPDI:: NC_000003.12:10104540:C:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.10104541C>T, NC_000003.11:g.10146225C>T, NG_042053.1:g.8691G>A, NM_001164839.2:c.234G>A, NM_001164839.1:c.234G>A, NM_173472.2:c.234G>A, NM_173472.1:c.234G>A, XR_007095632.1:n.580G>A, XR_007095633.1:n.580G>A, XR_007095635.1:n.483G>A, XR_007095634.1:n.580G>A, XR_007095636.1:n.456G>A, XM_047447400.1:c.261G>A

Select item 14761443472.

rs1476144347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:10104628 (GRCh38)
3:10146312 (GRCh37)
Canonical SPDI:: NC_000003.12:10104627:C:A
Gene:: FANCD2OS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104628C>A, NC_000003.11:g.10146312C>A, NG_042053.1:g.8604G>T, NM_001164839.2:c.147G>T, NM_001164839.1:c.147G>T, NM_173472.2:c.147G>T, NM_173472.1:c.147G>T, XR_007095632.1:n.493G>T, XR_007095633.1:n.493G>T, XR_007095635.1:n.396G>T, XR_007095634.1:n.493G>T, XR_007095636.1:n.369G>T, XM_047447400.1:c.174G>T, NP_001158311.1:p.Gln49His, NP_775743.1:p.Gln49His, XP_047303356.1:p.Gln58His

Select item 14700995353.

rs1470099535 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:10104492 (GRCh38)
3:10146176 (GRCh37)
Canonical SPDI:: NC_000003.12:10104491:GG:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000003.12:g.10104493del, NC_000003.11:g.10146177del, NG_042053.1:g.8740del, NM_001164839.2:c.283del, NM_001164839.1:c.283del, NM_173472.2:c.283del, NM_173472.1:c.283del, XR_007095632.1:n.629del, XR_007095633.1:n.629del, XR_007095635.1:n.532del, XR_007095634.1:n.629del, XR_007095636.1:n.505del, XM_047447400.1:c.310del, NP_001158311.1:p.Arg95fs, NP_775743.1:p.Arg95fs, XP_047303356.1:p.Arg104fs

Select item 14675239624.

rs1467523962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:10104245 (GRCh38)
3:10145929 (GRCh37)
Canonical SPDI:: NC_000003.12:10104244:T:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.10104245T>G, NC_000003.11:g.10145929T>G, NG_042053.1:g.8987A>C, NM_001164839.2:c.530A>C, NM_001164839.1:c.530A>C, NM_173472.2:c.530A>C, NM_173472.1:c.530A>C, XR_007095632.1:n.876A>C, XR_007095633.1:n.876A>C, XR_007095635.1:n.779A>C, XR_007095634.1:n.876A>C, XR_007095636.1:n.752A>C, XM_047447400.1:c.557A>C, NP_001158311.1:p.Lys177Thr, NP_775743.1:p.Lys177Thr, XP_047303356.1:p.Lys186Thr

Select item 14639675535.

rs1463967553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:10104439 (GRCh38)
3:10146123 (GRCh37)
Canonical SPDI:: NC_000003.12:10104438:T:C
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.10104439T>C, NC_000003.11:g.10146123T>C, NG_042053.1:g.8793A>G, NM_001164839.2:c.336A>G, NM_001164839.1:c.336A>G, NM_173472.2:c.336A>G, NM_173472.1:c.336A>G, XR_007095632.1:n.682A>G, XR_007095633.1:n.682A>G, XR_007095635.1:n.585A>G, XR_007095634.1:n.682A>G, XR_007095636.1:n.558A>G, XM_047447400.1:c.363A>G

Select item 14596391596.

rs1459639159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10104444 (GRCh38)
3:10146128 (GRCh37)
Canonical SPDI:: NC_000003.12:10104443:G:A
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104444G>A, NC_000003.11:g.10146128G>A, NG_042053.1:g.8788C>T, NM_001164839.2:c.331C>T, NM_001164839.1:c.331C>T, NM_173472.2:c.331C>T, NM_173472.1:c.331C>T, XR_007095632.1:n.677C>T, XR_007095633.1:n.677C>T, XR_007095635.1:n.580C>T, XR_007095634.1:n.677C>T, XR_007095636.1:n.553C>T, XM_047447400.1:c.358C>T, NP_001158311.1:p.Pro111Ser, NP_775743.1:p.Pro111Ser, XP_047303356.1:p.Pro120Ser

Select item 14585231777.

rs1458523177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:10104298 (GRCh38)
3:10145982 (GRCh37)
Canonical SPDI:: NC_000003.12:10104297:G:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.10104298G>T, NC_000003.11:g.10145982G>T, NG_042053.1:g.8934C>A, NM_001164839.2:c.477C>A, NM_001164839.1:c.477C>A, NM_173472.2:c.477C>A, NM_173472.1:c.477C>A, XR_007095632.1:n.823C>A, XR_007095633.1:n.823C>A, XR_007095635.1:n.726C>A, XR_007095634.1:n.823C>A, XR_007095636.1:n.699C>A, XM_047447400.1:c.504C>A

Select item 14583926888.

rs1458392688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:10104656 (GRCh38)
3:10146340 (GRCh37)
Canonical SPDI:: NC_000003.12:10104655:G:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.10104656G>T, NC_000003.11:g.10146340G>T, NG_042053.1:g.8576C>A, NM_001164839.2:c.119C>A, NM_001164839.1:c.119C>A, NM_173472.2:c.119C>A, NM_173472.1:c.119C>A, XR_007095632.1:n.465C>A, XR_007095633.1:n.465C>A, XR_007095635.1:n.368C>A, XR_007095634.1:n.465C>A, XR_007095636.1:n.341C>A, XM_047447400.1:c.146C>A, NP_001158311.1:p.Pro40Gln, NP_775743.1:p.Pro40Gln, XP_047303356.1:p.Pro49Gln

Select item 14503153689.

rs1450315368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:10104747 (GRCh38)
3:10146431 (GRCh37)
Canonical SPDI:: NC_000003.12:10104746:A:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104747A>G, NC_000003.11:g.10146431A>G, NG_042053.1:g.8485T>C, NM_001164839.2:c.28T>C, NM_001164839.1:c.28T>C, NM_173472.2:c.28T>C, NM_173472.1:c.28T>C, XR_007095632.1:n.374T>C, XR_007095633.1:n.374T>C, XR_007095635.1:n.277T>C, XR_007095634.1:n.374T>C, XR_007095636.1:n.250T>C, XM_047447400.1:c.55T>C, NP_001158311.1:p.Trp10Arg, NP_775743.1:p.Trp10Arg, XP_047303356.1:p.Trp19Arg

Select item 144036633210.

rs1440366332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:10104282 (GRCh38)
3:10145966 (GRCh37)
Canonical SPDI:: NC_000003.12:10104281:T:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104282T>G, NC_000003.11:g.10145966T>G, NG_042053.1:g.8950A>C, NM_001164839.2:c.493A>C, NM_001164839.1:c.493A>C, NM_173472.2:c.493A>C, NM_173472.1:c.493A>C, XR_007095632.1:n.839A>C, XR_007095633.1:n.839A>C, XR_007095635.1:n.742A>C, XR_007095634.1:n.839A>C, XR_007095636.1:n.715A>C, XM_047447400.1:c.520A>C, NP_001158311.1:p.Thr165Pro, NP_775743.1:p.Thr165Pro, XP_047303356.1:p.Thr174Pro

Select item 143897104811.

rs1438971048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10104284 (GRCh38)
3:10145968 (GRCh37)
Canonical SPDI:: NC_000003.12:10104283:G:A
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.10104284G>A, NC_000003.11:g.10145968G>A, NG_042053.1:g.8948C>T, NM_001164839.2:c.491C>T, NM_001164839.1:c.491C>T, NM_173472.2:c.491C>T, NM_173472.1:c.491C>T, XR_007095632.1:n.837C>T, XR_007095633.1:n.837C>T, XR_007095635.1:n.740C>T, XR_007095634.1:n.837C>T, XR_007095636.1:n.713C>T, XM_047447400.1:c.518C>T, NP_001158311.1:p.Ala164Val, NP_775743.1:p.Ala164Val, XP_047303356.1:p.Ala173Val

Select item 143330286612.

rs1433302866 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:10104452 (GRCh38)
3:10146136 (GRCh37)
Canonical SPDI:: NC_000003.12:10104451:G:A
Gene:: FANCD2OS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.10104452G>A, NC_000003.11:g.10146136G>A, NG_042053.1:g.8780C>T, NM_001164839.2:c.323C>T, NM_001164839.1:c.323C>T, NM_173472.2:c.323C>T, NM_173472.1:c.323C>T, XR_007095632.1:n.669C>T, XR_007095633.1:n.669C>T, XR_007095635.1:n.572C>T, XR_007095634.1:n.669C>T, XR_007095636.1:n.545C>T, XM_047447400.1:c.350C>T, NP_001158311.1:p.Thr108Ile, NP_775743.1:p.Thr108Ile, XP_047303356.1:p.Thr117Ile

Select item 141213670913.

rs1412136709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:10104316 (GRCh38)
3:10146000 (GRCh37)
Canonical SPDI:: NC_000003.12:10104315:T:C
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.10104316T>C, NC_000003.11:g.10146000T>C, NG_042053.1:g.8916A>G, NM_001164839.2:c.459A>G, NM_001164839.1:c.459A>G, NM_173472.2:c.459A>G, NM_173472.1:c.459A>G, XR_007095632.1:n.805A>G, XR_007095633.1:n.805A>G, XR_007095635.1:n.708A>G, XR_007095634.1:n.805A>G, XR_007095636.1:n.681A>G, XM_047447400.1:c.486A>G

Select item 140557992914.

rs1405579929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:10104757 (GRCh38)
3:10146441 (GRCh37)
Canonical SPDI:: NC_000003.12:10104756:G:A,NC_000003.12:10104756:G:C
Gene:: FANCD2OS (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104757G>A, NC_000003.12:g.10104757G>C, NC_000003.11:g.10146441G>A, NC_000003.11:g.10146441G>C, NG_042053.1:g.8475C>T, NG_042053.1:g.8475C>G, NM_001164839.2:c.18C>T, NM_001164839.2:c.18C>G, NM_001164839.1:c.18C>T, NM_001164839.1:c.18C>G, NM_173472.2:c.18C>T, NM_173472.2:c.18C>G, NM_173472.1:c.18C>T, NM_173472.1:c.18C>G, XR_007095632.1:n.364C>T, XR_007095632.1:n.364C>G, XR_007095633.1:n.364C>T, XR_007095633.1:n.364C>G, XR_007095635.1:n.267C>T, XR_007095635.1:n.267C>G, XR_007095634.1:n.364C>T, XR_007095634.1:n.364C>G, XR_007095636.1:n.240C>T, XR_007095636.1:n.240C>G, XM_047447400.1:c.45C>T, XM_047447400.1:c.45C>G

Select item 140248224615.

rs1402482246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:10104350 (GRCh38)
3:10146034 (GRCh37)
Canonical SPDI:: NC_000003.12:10104349:T:C,NC_000003.12:10104349:T:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104350T>C, NC_000003.12:g.10104350T>G, NC_000003.11:g.10146034T>C, NC_000003.11:g.10146034T>G, NG_042053.1:g.8882A>G, NG_042053.1:g.8882A>C, NM_001164839.2:c.425A>G, NM_001164839.2:c.425A>C, NM_001164839.1:c.425A>G, NM_001164839.1:c.425A>C, NM_173472.2:c.425A>G, NM_173472.2:c.425A>C, NM_173472.1:c.425A>G, NM_173472.1:c.425A>C, XR_007095632.1:n.771A>G, XR_007095632.1:n.771A>C, XR_007095633.1:n.771A>G, XR_007095633.1:n.771A>C, XR_007095635.1:n.674A>G, XR_007095635.1:n.674A>C, XR_007095634.1:n.771A>G, XR_007095634.1:n.771A>C, XR_007095636.1:n.647A>G, XR_007095636.1:n.647A>C, XM_047447400.1:c.452A>G, XM_047447400.1:c.452A>C, NP_001158311.1:p.Glu142Gly, NP_001158311.1:p.Glu142Ala, NP_775743.1:p.Glu142Gly, NP_775743.1:p.Glu142Ala, XP_047303356.1:p.Glu151Gly, XP_047303356.1:p.Glu151Ala

Select item 140032178216.

rs1400321782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:10104681 (GRCh38)
3:10146365 (GRCh37)
Canonical SPDI:: NC_000003.12:10104680:G:A,NC_000003.12:10104680:G:C
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.10104681G>A, NC_000003.12:g.10104681G>C, NC_000003.11:g.10146365G>A, NC_000003.11:g.10146365G>C, NG_042053.1:g.8551C>T, NG_042053.1:g.8551C>G, NM_001164839.2:c.94C>T, NM_001164839.2:c.94C>G, NM_001164839.1:c.94C>T, NM_001164839.1:c.94C>G, NM_173472.2:c.94C>T, NM_173472.2:c.94C>G, NM_173472.1:c.94C>T, NM_173472.1:c.94C>G, XR_007095632.1:n.440C>T, XR_007095632.1:n.440C>G, XR_007095633.1:n.440C>T, XR_007095633.1:n.440C>G, XR_007095635.1:n.343C>T, XR_007095635.1:n.343C>G, XR_007095634.1:n.440C>T, XR_007095634.1:n.440C>G, XR_007095636.1:n.316C>T, XR_007095636.1:n.316C>G, XM_047447400.1:c.121C>T, XM_047447400.1:c.121C>G, NP_001158311.1:p.Pro32Ser, NP_001158311.1:p.Pro32Ala, NP_775743.1:p.Pro32Ser, NP_775743.1:p.Pro32Ala, XP_047303356.1:p.Pro41Ser, XP_047303356.1:p.Pro41Ala

Select item 139729617817.

rs1397296178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:10104474 (GRCh38)
3:10146158 (GRCh37)
Canonical SPDI:: NC_000003.12:10104473:A:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.10104474A>T, NC_000003.11:g.10146158A>T, NG_042053.1:g.8758T>A, NM_001164839.2:c.301T>A, NM_001164839.1:c.301T>A, NM_173472.2:c.301T>A, NM_173472.1:c.301T>A, XR_007095632.1:n.647T>A, XR_007095633.1:n.647T>A, XR_007095635.1:n.550T>A, XR_007095634.1:n.647T>A, XR_007095636.1:n.523T>A, XM_047447400.1:c.328T>A, NP_001158311.1:p.Ser101Thr, NP_775743.1:p.Ser101Thr, XP_047303356.1:p.Ser110Thr

Select item 139111007118.

rs1391110071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:10104329 (GRCh38)
3:10146013 (GRCh37)
Canonical SPDI:: NC_000003.12:10104328:A:G
Gene:: FANCD2OS (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.10104329A>G, NC_000003.11:g.10146013A>G, NG_042053.1:g.8903T>C, NM_001164839.2:c.446T>C, NM_001164839.1:c.446T>C, NM_173472.2:c.446T>C, NM_173472.1:c.446T>C, XR_007095632.1:n.792T>C, XR_007095633.1:n.792T>C, XR_007095635.1:n.695T>C, XR_007095634.1:n.792T>C, XR_007095636.1:n.668T>C, XM_047447400.1:c.473T>C, NP_001158311.1:p.Val149Ala, NP_775743.1:p.Val149Ala, XP_047303356.1:p.Val158Ala

Select item 138893893919.

rs1388938939 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:10104369 (GRCh38)
3:10146053 (GRCh37)
Canonical SPDI:: NC_000003.12:10104368:A:T
Gene:: FANCD2OS (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.10104369A>T, NC_000003.11:g.10146053A>T, NG_042053.1:g.8863T>A, NM_001164839.2:c.406T>A, NM_001164839.1:c.406T>A, NM_173472.2:c.406T>A, NM_173472.1:c.406T>A, XR_007095632.1:n.752T>A, XR_007095633.1:n.752T>A, XR_007095635.1:n.655T>A, XR_007095634.1:n.752T>A, XR_007095636.1:n.628T>A, XM_047447400.1:c.433T>A, NP_001158311.1:p.Trp136Arg, NP_775743.1:p.Trp136Arg, XP_047303356.1:p.Trp145Arg

Select item 138759987520.

rs1387599875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAACTCTGAAACTCTGAA [Show Flanks]
Chromosome:: 3:10104409 (GRCh38)
3:10146094 (GRCh37)
Canonical SPDI:: NC_000003.12:10104409:TCTGAAACTCTGAA:TCTGAAACTCTGAATAACTCTGAAACTCTGAA
Gene:: FANCD2OS (Varview)
Functional Consequence:: inframe_insertion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TCTGAAACTCTGAATAACTCTGAAACTCTGAA=0./0 (ALFA)
TCTGAAACTCTGAATAAC=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.10104423_10104424insTAACTCTGAAACTCTGAA, NC_000003.11:g.10146107_10146108insTAACTCTGAAACTCTGAA, NG_042053.1:g.8809_8822TTCAGAGT[2]TATTCAGAGTTTCAGA[1], NM_001164839.2:c.365_366insGTTATTCAGAGTTTCAGA, NM_001164839.1:c.365_366insGTTATTCAGAGTTTCAGA, NM_173472.2:c.365_366insGTTATTCAGAGTTTCAGA, NM_173472.1:c.365_366insGTTATTCAGAGTTTCAGA, XR_007095632.1:n.698_711TTCAGAGT[2]TATTCAGAGTTTCAGA[1], XR_007095633.1:n.698_711TTCAGAGT[2]TATTCAGAGTTTCAGA[1], XR_007095635.1:n.601_614TTCAGAGT[2]TATTCAGAGTTTCAGA[1], XR_007095634.1:n.698_711TTCAGAGT[2]TATTCAGAGTTTCAGA[1], XR_007095636.1:n.574_587TTCAGAGT[2]TATTCAGAGTTTCAGA[1], XM_047447400.1:c.392_393insGTTATTCAGAGTTTCAGA, NP_001158311.1:p.Asp122_Lys123insGluLeuPheArgValSer, NP_775743.1:p.Asp122_Lys123insGluLeuPheArgValSer, XP_047303356.1:p.Asp131_Lys132insGluLeuPheArgValSer

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