ClinVar

NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28487524 (on Assembly GRCh38)
• Chr16: 28498845 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.392G>A (p.Ser131Asn)

Other names:

p.S131N:AGT>AAT

HGVS:

• NC_000016.10:g.28487524C>T
• NG_008654.2:g.9779G>A
• NM_000086.2:c.392G>A
• NM_001042432.2:c.392G>AMANE SELECT
• NM_001286104.2:c.320G>A
• NM_001286105.2:c.92G>A
• NM_001286109.2:c.158G>A
• NM_001286110.2:c.230G>A
• NP_000077.1:p.Ser131Asn
• NP_001035897.1:p.Ser131Asn
• NP_001035897.1:p.Ser131Asn
• NP_001273033.1:p.Ser107Asn
• NP_001273034.1:p.Ser31Asn
• NP_001273038.1:p.Ser53Asn
• NP_001273039.1:p.Ser77Asn
• LRG_689t1:c.392G>A
• LRG_689t2:c.392G>A
• LRG_689:g.9779G>A
• LRG_689p1:p.Ser131Asn
• LRG_689p2:p.Ser131Asn
• NC_000016.9:g.28498845C>T
• NM_001042432.1:c.392G>A
• NM_001042432.2:c.392G>A

This HGVS expression did not pass validation

Protein change:

S107N

Links:

dbSNP: rs144770450

NCBI 1000 Genomes Browser:

rs144770450

Molecular consequence:

• NM_000086.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.392G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286105.2:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286109.2:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286110.2:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]