ClinVar

NM_001042432.2(CLN3):c.127C>T (p.Leu43=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.1

Genomic location:

• Chr16: 28489385 (on Assembly GRCh38)
• Chr16: 28500706 (on Assembly GRCh37)

Preferred name:

NM_001042432.2(CLN3):c.127C>T (p.Leu43=)

HGVS:

• NC_000016.10:g.28489385G>A
• NG_008654.2:g.7918C>T
• NM_000086.2:c.127C>T
• NM_001042432.2:c.127C>TMANE SELECT
• NM_001286104.2:c.127C>T
• NM_001286105.2:c.-94C>T
• NM_001286109.2:c.-36C>T
• NM_001286110.2:c.-36C>T
• NP_000077.1:p.Leu43=
• NP_001035897.1:p.Leu43=
• NP_001273033.1:p.Leu43=
• LRG_689t1:c.127C>T
• LRG_689:g.7918C>T
• LRG_689p1:p.Leu43=
• NC_000016.9:g.28500706G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2141718228

NCBI 1000 Genomes Browser:

rs2141718228

Molecular consequence:

• NM_001286105.2:c.-94C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286109.2:c.-36C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286110.2:c.-36C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000086.2:c.127C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042432.2:c.127C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286104.2:c.127C>T - synonymous variant - [Sequence Ontology: SO:0001819]