ClinVar

NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28489369 (on Assembly GRCh38)
• Chr16: 28500690 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.143A>T (p.Asn48Ile)

HGVS:

• NC_000016.10:g.28489369T>A
• NG_008654.2:g.7934A>T
• NM_000086.2:c.143A>T
• NM_001042432.2:c.143A>TMANE SELECT
• NM_001286104.2:c.143A>T
• NM_001286105.2:c.-78A>T
• NM_001286109.2:c.-20A>T
• NM_001286110.2:c.-20A>T
• NP_000077.1:p.Asn48Ile
• NP_001035897.1:p.Asn48Ile
• NP_001035897.1:p.Asn48Ile
• NP_001273033.1:p.Asn48Ile
• LRG_689t1:c.143A>T
• LRG_689t2:c.143A>T
• LRG_689:g.7934A>T
• LRG_689p1:p.Asn48Ile
• LRG_689p2:p.Asn48Ile
• NC_000016.9:g.28500690T>A
• NM_001042432.1:c.143A>T

This HGVS expression did not pass validation

Protein change:

N48I

Molecular consequence:

• NM_001286105.2:c.-78A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286109.2:c.-20A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286110.2:c.-20A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000086.2:c.143A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042432.2:c.143A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286104.2:c.143A>T - missense variant - [Sequence Ontology: SO:0001583]