Transcript #00027643 (NM_001161441.1, SH2D2A gene)

Transcript name	Manually created transcript
Gene name	SH2D2A (SH2 domain containing 2A)
Chromosome	1
Transcript - NCBI ID	NM_001161441.1
Transcript - Ensembl ID	-
Protein - NCBI ID	-
Protein - Ensembl ID	-
Protein - Uniprot ID	-
Remarks	-
Date created	0000-00-00 00:00:00 +00:19 (LMT)
Date last edited	N/A

Variants

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Position: Position of variant in coding DNA sequence; note that coding DNA position can also be derived from the variant description.

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

PolyPhen prediction: Effect of variant, predicted by PolyPhen.
All options:

benign = Benign
possiblyDamaging = Possibly damaging
probablyDamaging = Probably damaging
noPrediction = No prediction

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
coding
coding-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
splice
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Splice distance: The distance to the nearest splice site.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

104 entries on 2 pages. Showing entries 1 - 100.

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Affects function	Exon	DNA change (cDNA)	Position	RNA change	Protein	PolyPhen prediction	GVS function	Splice distance
./.	-	c.-40A>T	-40	r.(=)	p.(=)	-	utr-5	-
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+19C>T	123	r.(=)	p.(=)	-	intron	19
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+27T>C	123	r.(=)	p.(=)	-	intron	27
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.123+35delC	123	r.(=)	p.(=)	-	intron	35
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-
./.	-	c.155A>G	155	r.(?)	p.(Asn52Ser)	-	missense	-

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MyGenome LOVD - This database is for training purposes only

COG8 (component of oligomeric golgi complex 8)