ClinVar

NM_000213.5(ITGB4):c.4009G>A (p.Ala1337Thr)

Genes:

GALK1:galactokinase 1 [Gene - OMIM - HGNC]
ITGB4:integrin subunit beta 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75752478 (on Assembly GRCh38)
• Chr17: 73748559 (on Assembly GRCh37)

Preferred name:

NM_000213.5(ITGB4):c.4009G>A (p.Ala1337Thr)

HGVS:

• NC_000017.11:g.75752478G>A
• NG_007372.1:g.36044G>A
• NG_007372.2:g.36021G>A
• NG_008079.2:g.17722C>T
• NM_000213.5:c.4009G>AMANE SELECT
• NM_001005619.1:c.4009G>A
• NM_001005731.3:c.4009G>A
• NM_001321123.2:c.4009G>A
• NM_001381985.1:c.*23-741C>T
• NP_000204.3:p.Ala1337Thr
• NP_001005619.1:p.Ala1337Thr
• NP_001005731.1:p.Ala1337Thr
• NP_001308052.1:p.Ala1337Thr
• LRG_1430:g.17722C>T
• NC_000017.10:g.73748559G>A

This HGVS expression did not pass validation

Protein change:

A1337T

Molecular consequence:

• NM_001381985.1:c.*23-741C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000213.5:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005619.1:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005731.3:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321123.2:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]