ClinVar

NM_004911.5(PDIA4):c.50A>T (p.Gln17Leu)

Gene:

PDIA4:protein disulfide isomerase family A member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 149028359 (on Assembly GRCh38)
• Chr7: 148725451 (on Assembly GRCh37)

Preferred name:

NM_004911.5(PDIA4):c.50A>T (p.Gln17Leu)

HGVS:

• NC_000007.14:g.149028359T>A
• NG_112740.1:g.240T>A
• NG_112740.2:g.240T>A
• NM_001371244.1:c.50A>T
• NM_001371245.1:c.50A>T
• NM_004911.5:c.50A>TMANE SELECT
• NP_001358173.1:p.Gln17Leu
• NP_001358174.1:p.Gln17Leu
• NP_004902.1:p.Gln17Leu
• NC_000007.13:g.148725451T>A
• NR_163905.1:n.147A>T
• NR_163906.1:n.147A>T
• NR_163907.1:n.147A>T
• NR_163908.1:n.132A>T

This HGVS expression did not pass validation

Protein change:

Q17L

Molecular consequence:

• NM_001371244.1:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371245.1:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004911.5:c.50A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_163905.1:n.147A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_163906.1:n.147A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_163907.1:n.147A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_163908.1:n.132A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]