ClinVar

NM_000081.4(LYST):c.1737C>T (p.Asn579=)

Gene:

LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.3

Genomic location:

• Chr1: 235809081 (on Assembly GRCh38)
• Chr1: 235972381 (on Assembly GRCh37)

Preferred name:

NM_000081.4(LYST):c.1737C>T (p.Asn579=)

HGVS:

• NC_000001.11:g.235809081G>A
• NG_007397.1:g.79560C>T
• NM_000081.4:c.1737C>TMANE SELECT
• NM_001301365.1:c.1737C>T
• NP_000072.2:p.Asn579=
• NP_000072.2:p.Asn579=
• NP_001288294.1:p.Asn579=
• LRG_143t1:c.1737C>T
• LRG_143t2:c.1737C>T
• LRG_143:g.79560C>T
• LRG_143p1:p.Asn579=
• LRG_143p2:p.Asn579=
• NC_000001.10:g.235972381G>A
• NM_000081.3:c.1737C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000081.4:c.1737C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001301365.1:c.1737C>T - synonymous variant - [Sequence Ontology: SO:0001819]