SNP Links for Protein (Select 147903302) - SNP

Select item 14895989851.

rs1489598985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:136224835 (GRCh38)
X:135306994 (GRCh37)
Canonical SPDI:: NC_000023.11:136224834:C:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136224835C>A, NC_000023.10:g.135306994C>A, NG_016801.1:g.36648G>T, NM_024597.4:c.2185G>T, NM_024597.3:c.2185G>T, NM_001173517.2:c.2080G>T, NM_001173517.1:c.2080G>T, NM_001173516.1:c.2131G>T, XM_005262472.3:c.2182G>T, XM_005262472.2:c.2182G>T, XM_005262472.1:c.2182G>T, XM_024452448.2:c.2185G>T, XM_024452448.1:c.2185G>T, XM_017029843.2:c.2143G>T, XM_017029843.1:c.2143G>T, XM_047442516.1:c.2182G>T, NP_078873.2:p.Ala729Ser, NP_001166988.1:p.Ala694Ser, NP_001166987.1:p.Ala711Ser, XP_005262529.1:p.Ala728Ser, XP_024308216.1:p.Ala729Ser, XP_016885332.1:p.Ala715Ser, XP_047298472.1:p.Ala728Ser

Select item 14890562552.

rs1489056255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136219495 (GRCh38)
X:135301654 (GRCh37)
Canonical SPDI:: NC_000023.11:136219494:C:T
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.136219495C>T, NC_000023.10:g.135301654C>T, NG_016801.1:g.41988G>A, NM_024597.4:c.2566G>A, NM_024597.3:c.2566G>A, NM_001173517.2:c.2461G>A, NM_001173517.1:c.2461G>A, NM_001173516.1:c.2512G>A, XM_005262472.3:c.2563G>A, XM_005262472.2:c.2563G>A, XM_005262472.1:c.2563G>A, XM_024452448.2:c.2566G>A, XM_024452448.1:c.2566G>A, XM_017029843.2:c.2524G>A, XM_017029843.1:c.2524G>A, XM_047442516.1:c.2563G>A, NP_078873.2:p.Ala856Thr, NP_001166988.1:p.Ala821Thr, NP_001166987.1:p.Ala838Thr, XP_005262529.1:p.Ala855Thr, XP_024308216.1:p.Ala856Thr, XP_016885332.1:p.Ala842Thr, XP_047298472.1:p.Ala855Thr

Select item 14885136803.

rs1488513680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136230437 (GRCh38)
X:135312596 (GRCh37)
Canonical SPDI:: NC_000023.11:136230436:A:G
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.136230437A>G, NC_000023.10:g.135312596A>G, NG_016801.1:g.31046T>C, NM_024597.4:c.1698T>C, NM_024597.3:c.1698T>C, NM_001173517.2:c.1593T>C, NM_001173517.1:c.1593T>C, NM_001173516.1:c.1644T>C, XM_005262472.3:c.1695T>C, XM_005262472.2:c.1695T>C, XM_005262472.1:c.1695T>C, XM_024452448.2:c.1698T>C, XM_024452448.1:c.1698T>C, XM_017029843.2:c.1656T>C, XM_017029843.1:c.1656T>C, XM_047442516.1:c.1695T>C

Select item 14877379314.

rs1487737931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136227394 (GRCh38)
X:135309553 (GRCh37)
Canonical SPDI:: NC_000023.11:136227393:C:T
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.136227394C>T, NC_000023.10:g.135309553C>T, NG_016801.1:g.34089G>A, NM_024597.4:c.1924G>A, NM_024597.3:c.1924G>A, NM_001173517.2:c.1819G>A, NM_001173517.1:c.1819G>A, NM_001173516.1:c.1870G>A, XM_005262472.3:c.1921G>A, XM_005262472.2:c.1921G>A, XM_005262472.1:c.1921G>A, XM_024452448.2:c.1924G>A, XM_024452448.1:c.1924G>A, XM_017029843.2:c.1882G>A, XM_017029843.1:c.1882G>A, XM_047442516.1:c.1921G>A, NP_078873.2:p.Val642Ile, NP_001166988.1:p.Val607Ile, NP_001166987.1:p.Val624Ile, XP_005262529.1:p.Val641Ile, XP_024308216.1:p.Val642Ile, XP_016885332.1:p.Val628Ile, XP_047298472.1:p.Val641Ile

Select item 14871037105.

rs1487103710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136220906 (GRCh38)
X:135303065 (GRCh37)
Canonical SPDI:: NC_000023.11:136220905:T:C
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.136220906T>C, NC_000023.10:g.135303065T>C, NG_016801.1:g.40577A>G, NM_024597.4:c.2345A>G, NM_024597.3:c.2345A>G, NM_001173517.2:c.2240A>G, NM_001173517.1:c.2240A>G, NM_001173516.1:c.2291A>G, XM_005262472.3:c.2342A>G, XM_005262472.2:c.2342A>G, XM_005262472.1:c.2342A>G, XM_024452448.2:c.2345A>G, XM_024452448.1:c.2345A>G, XM_017029843.2:c.2303A>G, XM_017029843.1:c.2303A>G, XM_047442516.1:c.2342A>G, NP_078873.2:p.Lys782Arg, NP_001166988.1:p.Lys747Arg, NP_001166987.1:p.Lys764Arg, XP_005262529.1:p.Lys781Arg, XP_024308216.1:p.Lys782Arg, XP_016885332.1:p.Lys768Arg, XP_047298472.1:p.Lys781Arg

Select item 14869337566.

rs1486933756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136251314 (GRCh38)
X:135333473 (GRCh37)
Canonical SPDI:: NC_000023.11:136251313:G:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136251314G>A, NC_000023.10:g.135333473G>A, NG_016801.1:g.10169C>T, NM_024597.4:c.45C>T, NM_024597.3:c.45C>T, NM_001173517.2:c.45C>T, NM_001173517.1:c.45C>T, XM_005262472.3:c.45C>T, XM_005262472.2:c.45C>T, XM_005262472.1:c.45C>T, XM_024452448.2:c.45C>T, XM_024452448.1:c.45C>T, XM_047442516.1:c.45C>T

Select item 14852152957.

rs1485215295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136220898 (GRCh38)
X:135303057 (GRCh37)
Canonical SPDI:: NC_000023.11:136220897:T:C
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.136220898T>C, NC_000023.10:g.135303057T>C, NG_016801.1:g.40585A>G, NM_024597.4:c.2353A>G, NM_024597.3:c.2353A>G, NM_001173517.2:c.2248A>G, NM_001173517.1:c.2248A>G, NM_001173516.1:c.2299A>G, XM_005262472.3:c.2350A>G, XM_005262472.2:c.2350A>G, XM_005262472.1:c.2350A>G, XM_024452448.2:c.2353A>G, XM_024452448.1:c.2353A>G, XM_017029843.2:c.2311A>G, XM_017029843.1:c.2311A>G, XM_047442516.1:c.2350A>G, NP_078873.2:p.Thr785Ala, NP_001166988.1:p.Thr750Ala, NP_001166987.1:p.Thr767Ala, XP_005262529.1:p.Thr784Ala, XP_024308216.1:p.Thr785Ala, XP_016885332.1:p.Thr771Ala, XP_047298472.1:p.Thr784Ala

Select item 14851631188.

rs1485163118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136228687 (GRCh38)
X:135310846 (GRCh37)
Canonical SPDI:: NC_000023.11:136228686:G:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.136228687G>A, NC_000023.10:g.135310846G>A, NG_016801.1:g.32796C>T, NM_024597.4:c.1822C>T, NM_024597.3:c.1822C>T, NM_001173517.2:c.1717C>T, NM_001173517.1:c.1717C>T, NM_001173516.1:c.1768C>T, XM_005262472.3:c.1819C>T, XM_005262472.2:c.1819C>T, XM_005262472.1:c.1819C>T, XM_024452448.2:c.1822C>T, XM_024452448.1:c.1822C>T, XM_017029843.2:c.1780C>T, XM_017029843.1:c.1780C>T, XM_047442516.1:c.1819C>T, NP_078873.2:p.Arg608Cys, NP_001166988.1:p.Arg573Cys, NP_001166987.1:p.Arg590Cys, XP_005262529.1:p.Arg607Cys, XP_024308216.1:p.Arg608Cys, XP_016885332.1:p.Arg594Cys, XP_047298472.1:p.Arg607Cys

Select item 14849786519.

rs1484978651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:136246295 (GRCh38)
X:135328454 (GRCh37)
Canonical SPDI:: NC_000023.11:136246294:C:A,NC_000023.11:136246294:C:T
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136246295C>A, NC_000023.11:g.136246295C>T, NC_000023.10:g.135328454C>A, NC_000023.10:g.135328454C>T, NG_016801.1:g.15188G>T, NG_016801.1:g.15188G>A, NM_024597.4:c.117G>T, NM_024597.4:c.117G>A, NM_024597.3:c.117G>T, NM_024597.3:c.117G>A, NM_001173517.2:c.117G>T, NM_001173517.2:c.117G>A, NM_001173517.1:c.117G>T, NM_001173517.1:c.117G>A, NM_001173516.1:c.63G>T, NM_001173516.1:c.63G>A, XM_005262472.3:c.117G>T, XM_005262472.3:c.117G>A, XM_005262472.2:c.117G>T, XM_005262472.2:c.117G>A, XM_005262472.1:c.117G>T, XM_005262472.1:c.117G>A, XM_024452448.2:c.117G>T, XM_024452448.2:c.117G>A, XM_024452448.1:c.117G>T, XM_024452448.1:c.117G>A, XM_017029843.2:c.75G>T, XM_017029843.2:c.75G>A, XM_017029843.1:c.75G>T, XM_017029843.1:c.75G>A, XM_047442516.1:c.117G>T, XM_047442516.1:c.117G>A

Select item 148240708310.

rs1482407083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136230480 (GRCh38)
X:135312639 (GRCh37)
Canonical SPDI:: NC_000023.11:136230479:T:C
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.136230480T>C, NC_000023.10:g.135312639T>C, NG_016801.1:g.31003A>G, NM_024597.4:c.1655A>G, NM_024597.3:c.1655A>G, NM_001173517.2:c.1550A>G, NM_001173517.1:c.1550A>G, NM_001173516.1:c.1601A>G, XM_005262472.3:c.1652A>G, XM_005262472.2:c.1652A>G, XM_005262472.1:c.1652A>G, XM_024452448.2:c.1655A>G, XM_024452448.1:c.1655A>G, XM_017029843.2:c.1613A>G, XM_017029843.1:c.1613A>G, XM_047442516.1:c.1652A>G, NP_078873.2:p.Gln552Arg, NP_001166988.1:p.Gln517Arg, NP_001166987.1:p.Gln534Arg, XP_005262529.1:p.Gln551Arg, XP_024308216.1:p.Gln552Arg, XP_016885332.1:p.Gln538Arg, XP_047298472.1:p.Gln551Arg

Select item 147940544611.

rs1479405446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:136230550 (GRCh38)
X:135312709 (GRCh37)
Canonical SPDI:: NC_000023.11:136230549:T:G
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136230550T>G, NC_000023.10:g.135312709T>G, NG_016801.1:g.30933A>C, NM_024597.4:c.1585A>C, NM_024597.3:c.1585A>C, NM_001173517.2:c.1480A>C, NM_001173517.1:c.1480A>C, NM_001173516.1:c.1531A>C, XM_005262472.3:c.1582A>C, XM_005262472.2:c.1582A>C, XM_005262472.1:c.1582A>C, XM_024452448.2:c.1585A>C, XM_024452448.1:c.1585A>C, XM_017029843.2:c.1543A>C, XM_017029843.1:c.1543A>C, XM_047442516.1:c.1582A>C, NP_078873.2:p.Ile529Leu, NP_001166988.1:p.Ile494Leu, NP_001166987.1:p.Ile511Leu, XP_005262529.1:p.Ile528Leu, XP_024308216.1:p.Ile529Leu, XP_016885332.1:p.Ile515Leu, XP_047298472.1:p.Ile528Leu

Select item 147787191012.

rs1477871910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136244657 (GRCh38)
X:135326816 (GRCh37)
Canonical SPDI:: NC_000023.11:136244656:C:T
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.136244657C>T, NC_000023.10:g.135326816C>T, NG_016801.1:g.16826G>A, NM_024597.4:c.392G>A, NM_024597.3:c.392G>A, NM_001173517.2:c.392G>A, NM_001173517.1:c.392G>A, NM_001173516.1:c.338G>A, XM_005262472.3:c.392G>A, XM_005262472.2:c.392G>A, XM_005262472.1:c.392G>A, XM_024452448.2:c.392G>A, XM_024452448.1:c.392G>A, XM_017029843.2:c.350G>A, XM_017029843.1:c.350G>A, XM_047442516.1:c.392G>A, NP_078873.2:p.Arg131Lys, NP_001166988.1:p.Arg131Lys, NP_001166987.1:p.Arg113Lys, XP_005262529.1:p.Arg131Lys, XP_024308216.1:p.Arg131Lys, XP_016885332.1:p.Arg117Lys, XP_047298472.1:p.Arg131Lys

Select item 147722178013.

rs1477221780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:136220892 (GRCh38)
X:135303051 (GRCh37)
Canonical SPDI:: NC_000023.11:136220891:T:C,NC_000023.11:136220891:T:G
Gene:: MAP7D3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.001305/17 (TOMMO)
HGVS:: NC_000023.11:g.136220892T>C, NC_000023.11:g.136220892T>G, NC_000023.10:g.135303051T>C, NC_000023.10:g.135303051T>G, NG_016801.1:g.40591A>G, NG_016801.1:g.40591A>C, NM_024597.4:c.2359A>G, NM_024597.4:c.2359A>C, NM_024597.3:c.2359A>G, NM_024597.3:c.2359A>C, NM_001173517.2:c.2254A>G, NM_001173517.2:c.2254A>C, NM_001173517.1:c.2254A>G, NM_001173517.1:c.2254A>C, NM_001173516.1:c.2305A>G, NM_001173516.1:c.2305A>C, XM_005262472.3:c.2356A>G, XM_005262472.3:c.2356A>C, XM_005262472.2:c.2356A>G, XM_005262472.2:c.2356A>C, XM_005262472.1:c.2356A>G, XM_005262472.1:c.2356A>C, XM_024452448.2:c.2359A>G, XM_024452448.2:c.2359A>C, XM_024452448.1:c.2359A>G, XM_024452448.1:c.2359A>C, XM_017029843.2:c.2317A>G, XM_017029843.2:c.2317A>C, XM_017029843.1:c.2317A>G, XM_017029843.1:c.2317A>C, XM_047442516.1:c.2356A>G, XM_047442516.1:c.2356A>C, NP_078873.2:p.Lys787Glu, NP_078873.2:p.Lys787Gln, NP_001166988.1:p.Lys752Glu, NP_001166988.1:p.Lys752Gln, NP_001166987.1:p.Lys769Glu, NP_001166987.1:p.Lys769Gln, XP_005262529.1:p.Lys786Glu, XP_005262529.1:p.Lys786Gln, XP_024308216.1:p.Lys787Glu, XP_024308216.1:p.Lys787Gln, XP_016885332.1:p.Lys773Glu, XP_016885332.1:p.Lys773Gln, XP_047298472.1:p.Lys786Glu, XP_047298472.1:p.Lys786Gln

Select item 147209667014.

rs1472096670 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:136232205 (GRCh38)
X:135314364 (GRCh37)
Canonical SPDI:: NC_000023.11:136232204:T:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136232205T>A, NC_000023.10:g.135314364T>A, NG_016801.1:g.29278A>T, NM_024597.4:c.752A>T, NM_024597.3:c.752A>T, NM_001173517.2:c.647A>T, NM_001173517.1:c.647A>T, NM_001173516.1:c.698A>T, XM_005262472.3:c.752A>T, XM_005262472.2:c.752A>T, XM_005262472.1:c.752A>T, XM_024452448.2:c.752A>T, XM_024452448.1:c.752A>T, XM_017029843.2:c.710A>T, XM_017029843.1:c.710A>T, XM_047442516.1:c.752A>T, NP_078873.2:p.Asn251Ile, NP_001166988.1:p.Asn216Ile, NP_001166987.1:p.Asn233Ile, XP_005262529.1:p.Asn251Ile, XP_024308216.1:p.Asn251Ile, XP_016885332.1:p.Asn237Ile, XP_047298472.1:p.Asn251Ile

Select item 146971846915.

rs1469718469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136219625 (GRCh38)
X:135301784 (GRCh37)
Canonical SPDI:: NC_000023.11:136219624:C:T
Gene:: MAP7D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136219625C>T, NC_000023.10:g.135301784C>T, NG_016801.1:g.41858G>A, NM_024597.4:c.2533G>A, NM_024597.3:c.2533G>A, NM_001173517.2:c.2428G>A, NM_001173517.1:c.2428G>A, NM_001173516.1:c.2479G>A, XM_005262472.3:c.2530G>A, XM_005262472.2:c.2530G>A, XM_005262472.1:c.2530G>A, XM_024452448.2:c.2533G>A, XM_024452448.1:c.2533G>A, XM_017029843.2:c.2491G>A, XM_017029843.1:c.2491G>A, XM_047442516.1:c.2530G>A, NP_078873.2:p.Ala845Thr, NP_001166988.1:p.Ala810Thr, NP_001166987.1:p.Ala827Thr, XP_005262529.1:p.Ala844Thr, XP_024308216.1:p.Ala845Thr, XP_016885332.1:p.Ala831Thr, XP_047298472.1:p.Ala844Thr

Select item 146920613816.

rs1469206138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136222468 (GRCh38)
X:135304627 (GRCh37)
Canonical SPDI:: NC_000023.11:136222467:G:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136222468G>A, NC_000023.10:g.135304627G>A, NG_016801.1:g.39015C>T, NM_024597.4:c.2212C>T, NM_024597.3:c.2212C>T, NM_001173517.2:c.2107C>T, NM_001173517.1:c.2107C>T, NM_001173516.1:c.2158C>T, XM_005262472.3:c.2209C>T, XM_005262472.2:c.2209C>T, XM_005262472.1:c.2209C>T, XM_024452448.2:c.2212C>T, XM_024452448.1:c.2212C>T, XM_017029843.2:c.2170C>T, XM_017029843.1:c.2170C>T, XM_047442516.1:c.2209C>T, NP_078873.2:p.His738Tyr, NP_001166988.1:p.His703Tyr, NP_001166987.1:p.His720Tyr, XP_005262529.1:p.His737Tyr, XP_024308216.1:p.His738Tyr, XP_016885332.1:p.His724Tyr, XP_047298472.1:p.His737Tyr

Select item 146907964017.

rs1469079640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:136232089 (GRCh38)
X:135314248 (GRCh37)
Canonical SPDI:: NC_000023.11:136232088:A:T
Gene:: MAP7D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136232089A>T, NC_000023.10:g.135314248A>T, NG_016801.1:g.29394T>A, NM_024597.4:c.868T>A, NM_024597.3:c.868T>A, NM_001173517.2:c.763T>A, NM_001173517.1:c.763T>A, NM_001173516.1:c.814T>A, XM_005262472.3:c.868T>A, XM_005262472.2:c.868T>A, XM_005262472.1:c.868T>A, XM_024452448.2:c.868T>A, XM_024452448.1:c.868T>A, XM_017029843.2:c.826T>A, XM_017029843.1:c.826T>A, XM_047442516.1:c.868T>A, NP_078873.2:p.Ser290Thr, NP_001166988.1:p.Ser255Thr, NP_001166987.1:p.Ser272Thr, XP_005262529.1:p.Ser290Thr, XP_024308216.1:p.Ser290Thr, XP_016885332.1:p.Ser276Thr, XP_047298472.1:p.Ser290Thr

Select item 146665608118.

rs1466656081 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:136231979 (GRCh38)
X:135314138 (GRCh37)
Canonical SPDI:: NC_000023.11:136231978:A:
Gene:: MAP7D3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136231979del, NC_000023.10:g.135314138del, NG_016801.1:g.29504del, NM_024597.4:c.978del, NM_024597.3:c.978del, NM_001173517.2:c.873del, NM_001173517.1:c.873del, NM_001173516.1:c.924del, XM_005262472.3:c.978del, XM_005262472.2:c.978del, XM_005262472.1:c.978del, XM_024452448.2:c.978del, XM_024452448.1:c.978del, XM_017029843.2:c.936del, XM_017029843.1:c.936del, XM_047442516.1:c.978del, NP_078873.2:p.Val327fs, NP_001166988.1:p.Val292fs, NP_001166987.1:p.Val309fs, XP_005262529.1:p.Val327fs, XP_024308216.1:p.Val327fs, XP_016885332.1:p.Val313fs, XP_047298472.1:p.Val327fs

Select item 146632837619.

rs1466328376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:136230893 (GRCh38)
X:135313052 (GRCh37)
Canonical SPDI:: NC_000023.11:136230892:T:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.136230893T>A, NC_000023.10:g.135313052T>A, NG_016801.1:g.30590A>T, NM_024597.4:c.1487A>T, NM_024597.3:c.1487A>T, NM_001173517.2:c.1382A>T, NM_001173517.1:c.1382A>T, NM_001173516.1:c.1433A>T, XM_005262472.3:c.1487A>T, XM_005262472.2:c.1487A>T, XM_005262472.1:c.1487A>T, XM_024452448.2:c.1487A>T, XM_024452448.1:c.1487A>T, XM_017029843.2:c.1445A>T, XM_017029843.1:c.1445A>T, XM_047442516.1:c.1487A>T, NP_078873.2:p.Lys496Ile, NP_001166988.1:p.Lys461Ile, NP_001166987.1:p.Lys478Ile, XP_005262529.1:p.Lys496Ile, XP_024308216.1:p.Lys496Ile, XP_016885332.1:p.Lys482Ile, XP_047298472.1:p.Lys496Ile

Select item 146570458620.

rs1465704586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136246288 (GRCh38)
X:135328447 (GRCh37)
Canonical SPDI:: NC_000023.11:136246287:G:A
Gene:: MAP7D3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136246288G>A, NC_000023.10:g.135328447G>A, NG_016801.1:g.15195C>T, NM_024597.4:c.124C>T, NM_024597.3:c.124C>T, NM_001173517.2:c.124C>T, NM_001173517.1:c.124C>T, NM_001173516.1:c.70C>T, XM_005262472.3:c.124C>T, XM_005262472.2:c.124C>T, XM_005262472.1:c.124C>T, XM_024452448.2:c.124C>T, XM_024452448.1:c.124C>T, XM_017029843.2:c.82C>T, XM_017029843.1:c.82C>T, XM_047442516.1:c.124C>T, NP_078873.2:p.Arg42Cys, NP_001166988.1:p.Arg42Cys, NP_001166987.1:p.Arg24Cys, XP_005262529.1:p.Arg42Cys, XP_024308216.1:p.Arg42Cys, XP_016885332.1:p.Arg28Cys, XP_047298472.1:p.Arg42Cys

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