ClinVar

NM_199127.3(GGTLC2):c.8C>T (p.Ser3Phe)

Genes:

GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
IGL:immunoglobulin lambda locus [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.22

Genomic location:

• Chr22: 22646353 (on Assembly GRCh38)
• Chr22: 22988823 (on Assembly GRCh37)

Preferred name:

NM_199127.3(GGTLC2):c.8C>T (p.Ser3Phe)

HGVS:

• NC_000022.11:g.22646353C>T
• NG_000002.1:g.612807C>T
• NM_001282879.2:c.8C>T
• NM_001391910.1:c.8C>T
• NM_001391911.1:c.8C>T
• NM_199127.3:c.8C>TMANE SELECT
• NP_001269808.1:p.Ser3Phe
• NP_001378839.1:p.Ser3Phe
• NP_001378840.1:p.Ser3Phe
• NP_954578.2:p.Ser3Phe
• NC_000022.10:g.22988823C>T
• NM_199127.2:c.8C>T

This HGVS expression did not pass validation

Protein change:

S3F

Molecular consequence:

• NM_001282879.2:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391910.1:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391911.1:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199127.3:c.8C>T - missense variant - [Sequence Ontology: SO:0001583]