ClinVar

NM_032932.6(RAB11FIP4):c.1901A>T (p.Glu634Val)

Gene:

RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 31531719 (on Assembly GRCh38)
• Chr17: 29858737 (on Assembly GRCh37)

Preferred name:

NM_032932.6(RAB11FIP4):c.1901A>T (p.Glu634Val)

HGVS:

• NC_000017.11:g.31531719A>T
• NG_051977.1:g.145096A>T
• NM_001303542.3:c.1595A>T
• NM_001346747.2:c.1400A>T
• NM_001346748.2:c.1478A>T
• NM_001346749.2:c.1121A>T
• NM_032932.6:c.1901A>TMANE SELECT
• NP_001290471.2:p.Glu532Val
• NP_001333676.1:p.Glu467Val
• NP_001333677.1:p.Glu493Val
• NP_001333678.1:p.Glu374Val
• NP_116321.2:p.Glu634Val
• NC_000017.10:g.29858737A>T
• NM_032932.3:c.1901A>T

This HGVS expression did not pass validation

Protein change:

E374V

Links:

dbSNP: rs193921026

NCBI 1000 Genomes Browser:

rs193921026

Molecular consequence:

• NM_001303542.3:c.1595A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346747.2:c.1400A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346748.2:c.1478A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346749.2:c.1121A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032932.6:c.1901A>T - missense variant - [Sequence Ontology: SO:0001583]