ClinVar

NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr)

Gene:

ABCB4:ATP binding cassette subfamily B member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

• Chr7: 87406476 (on Assembly GRCh38)
• Chr7: 87035792 (on Assembly GRCh37)

Preferred name:

NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr)

HGVS:

• NC_000007.14:g.87406476C>T
• NG_007118.2:g.78957G>A
• NM_000443.3:c.3298G>A
• NM_000443.4:c.3298G>AMANE SELECT
• NM_018849.3:c.3319G>A
• NM_018850.3:c.3157G>A
• NP_000434.1:p.Ala1100Thr
• NP_061337.1:p.Ala1107Thr
• NP_061338.1:p.Ala1053Thr
• NC_000007.13:g.87035792C>T

This HGVS expression did not pass validation

Protein change:

A1053T

Links:

dbSNP: rs31655

NCBI 1000 Genomes Browser:

rs31655

Molecular consequence:

• NM_000443.4:c.3298G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018849.3:c.3319G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018850.3:c.3157G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2