ClinVar

NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28477771 (on Assembly GRCh38)
• Chr16: 28489092 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val)

HGVS:

• NC_000016.10:g.28477771G>A
• NG_008654.2:g.19532C>T
• NM_000086.2:c.1163C>T
• NM_001042432.2:c.1163C>TMANE SELECT
• NM_001286104.2:c.1091C>T
• NM_001286105.2:c.863C>T
• NM_001286109.2:c.929C>T
• NM_001286110.2:c.1001C>T
• NP_000077.1:p.Ala388Val
• NP_001035897.1:p.Ala388Val
• NP_001035897.1:p.Ala388Val
• NP_001273033.1:p.Ala364Val
• NP_001273034.1:p.Ala288Val
• NP_001273038.1:p.Ala310Val
• NP_001273039.1:p.Ala334Val
• LRG_689t1:c.1163C>T
• LRG_689t2:c.1163C>T
• LRG_689:g.19532C>T
• LRG_689p1:p.Ala388Val
• LRG_689p2:p.Ala388Val
• NC_000016.9:g.28489092G>A
• NM_001042432.1:c.1163C>T
• NM_001042432.2:c.1163C>T

This HGVS expression did not pass validation

Protein change:

A288V

Links:

dbSNP: rs148514847

NCBI 1000 Genomes Browser:

rs148514847

Molecular consequence:

• NM_000086.2:c.1163C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.1163C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.863C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.929C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2