ClinVar

NM_001042432.2(CLN3):c.771G>A (p.Glu257=)

Gene:

CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28484025 (on Assembly GRCh38)
• Chr16: 28495346 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.771G>A (p.Glu257=)

Other names:

p.E257E:GAG>GAA

HGVS:

• NC_000016.10:g.28484025C>T
• NG_008654.2:g.13278G>A
• NM_000086.2:c.771G>A
• NM_001042432.2:c.771G>AMANE SELECT
• NM_001286104.2:c.699G>A
• NM_001286105.2:c.471G>A
• NM_001286109.2:c.537G>A
• NM_001286110.2:c.609G>A
• NP_000077.1:p.Glu257=
• NP_001035897.1:p.Glu257=
• NP_001035897.1:p.Glu257=
• NP_001273033.1:p.Glu233=
• NP_001273034.1:p.Glu157=
• NP_001273038.1:p.Glu179=
• NP_001273039.1:p.Glu203=
• LRG_689t1:c.771G>A
• LRG_689t2:c.771G>A
• LRG_689:g.13278G>A
• LRG_689p1:p.Glu257=
• LRG_689p2:p.Glu257=
• NC_000016.9:g.28495346C>T
• NM_001042432.1:c.771G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs73533466

NCBI 1000 Genomes Browser:

rs73533466

Molecular consequence:

• NM_000086.2:c.771G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042432.2:c.771G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286104.2:c.699G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286105.2:c.471G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286109.2:c.537G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286110.2:c.609G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1