ClinVar

NM_001374385.1(ATP8B1):c.2097+2T>C

Gene:

ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

• Chr18: 57669316 (on Assembly GRCh38)
• Chr18: 55336548 (on Assembly GRCh37)

Preferred name:

NM_001374385.1(ATP8B1):c.2097+2T>C

HGVS:

• NC_000018.10:g.57669316A>G
• NG_007148.3:g.139507T>C
• NM_001374385.1:c.2097+2T>CMANE SELECT
• NM_001374386.1:c.1947+2T>C
• NM_005603.6:c.2097+2T>C
• LRG_1205t1:c.2097+2T>C
• LRG_1205:g.139507T>C
• NC_000018.9:g.55336548A>G
• NG_007148.2:g.138780T>C

This HGVS expression did not pass validation

Links:

OMIM: 602397.0004; dbSNP: rs387906381

NCBI 1000 Genomes Browser:

rs387906381

Molecular consequence:

• NM_001374385.1:c.2097+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001374386.1:c.1947+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_005603.6:c.2097+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1