ClinVar

NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)

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: 75757422 (on Assembly GRCh38)
• Chr17: 73753503 (on Assembly GRCh37)

Preferred name:

NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)

HGVS:

• NC_000017.11:g.75757422T>C
• NG_007372.1:g.40988T>C
• NG_008079.1:g.12778A>G
• NM_000213.5:c.5336T>CMANE SELECT
• NM_001005619.1:c.5285T>C
• NM_001005731.3:c.5126T>C
• NM_001321123.2:c.5126T>C
• NP_000204.3:p.Leu1779Pro
• NP_001005619.1:p.Leu1762Pro
• NP_001005731.1:p.Leu1709Pro
• NP_001308052.1:p.Leu1709Pro
• NC_000017.10:g.73753503T>C
• NM_000213.3:c.5336T>C
• NM_001005731.1:c.5126T>C
• P16144:p.Leu1779Pro

This HGVS expression did not pass validation

Protein change:

L1709P

Links:

UniProtKB: P16144#VAR_027804; dbSNP: rs871443

NCBI 1000 Genomes Browser:

rs871443

Molecular consequence:

• NM_000213.5:c.5336T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005619.1:c.5285T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001005731.3:c.5126T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321123.2:c.5126T>C - missense variant - [Sequence Ontology: SO:0001583]