ClinVar

NM_000213.5(ITGB4):c.2962+135T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75742896 (on Assembly GRCh38)
• Chr17: 73738977 (on Assembly GRCh37)

Preferred name:

NM_000213.5(ITGB4):c.2962+135T>C

HGVS:

• NC_000017.11:g.75742896T>C
• NG_007372.1:g.26462T>C
• NM_000213.5:c.2962+135T>CMANE SELECT
• NM_001005619.1:c.2962+135T>C
• NM_001005731.3:c.2962+135T>C
• NM_001321123.2:c.2962+135T>C
• NC_000017.10:g.73738977T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs80186612

NCBI 1000 Genomes Browser:

rs80186612

Molecular consequence:

• NM_000213.5:c.2962+135T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005619.1:c.2962+135T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001005731.3:c.2962+135T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321123.2:c.2962+135T>C - intron variant - [Sequence Ontology: SO:0001627]